Proteins - OMIM Diseases Report

Result filters:
At least 5 PMID overlaps

Institute for Computational Biomedicine
Weill Medical College of Cornell University

Click + / − next to a Protein to expand/collapse the list of OMIM Diseases for that Protein.

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+ IPI00002707 - Spastin. SPAST (23 diseases found)

607225 - SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP (115 Overlapping PMIDs. View on Twease.org )
275900 - SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 (113 Overlapping PMIDs. View on Twease.org )
609195 - SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 (109 Overlapping PMIDs. View on Twease.org )
610244 - SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 (109 Overlapping PMIDs. View on Twease.org )
609727 - SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 (108 Overlapping PMIDs. View on Twease.org )
182600 - SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A (104 Overlapping PMIDs. View on Twease.org )
182601 - SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 (103 Overlapping PMIDs. View on Twease.org )
605280 - SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 (103 Overlapping PMIDs. View on Twease.org )
607584 - SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24 (102 Overlapping PMIDs. View on Twease.org )
108650 - ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS (96 Overlapping PMIDs. View on Twease.org )
270710 - FITZSIMMONS-GUILBERT SYNDROME (94 Overlapping PMIDs. View on Twease.org )
607259 - SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 (94 Overlapping PMIDs. View on Twease.org )
270805 - SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY (93 Overlapping PMIDs. View on Twease.org )
600302 - FRYNS MACROCEPHALY (93 Overlapping PMIDs. View on Twease.org )
607152 - SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19 (93 Overlapping PMIDs. View on Twease.org )
607565 - SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (91 Overlapping PMIDs. View on Twease.org )
610357 - SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 (90 Overlapping PMIDs. View on Twease.org )
300076 - IMMUNONEUROLOGIC DISORDER, X-LINKED (85 Overlapping PMIDs. View on Twease.org )
248900 - MAST SYNDROME (84 Overlapping PMIDs. View on Twease.org )
605229 - SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14 (82 Overlapping PMIDs. View on Twease.org )
610743 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 (74 Overlapping PMIDs. View on Twease.org )
270700 - SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 (68 Overlapping PMIDs. View on Twease.org )
312080 - PELIZAEUS-MERZBACHER DISEASE; PMD (51 Overlapping PMIDs. View on Twease.org )

+ IPI00219816 - Spastin. SPAST (23 diseases found)

607225 - SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP (115 Overlapping PMIDs. View on Twease.org )
275900 - SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 (113 Overlapping PMIDs. View on Twease.org )
609195 - SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 (109 Overlapping PMIDs. View on Twease.org )
610244 - SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 (109 Overlapping PMIDs. View on Twease.org )
609727 - SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 (108 Overlapping PMIDs. View on Twease.org )
182600 - SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A (104 Overlapping PMIDs. View on Twease.org )
182601 - SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 (103 Overlapping PMIDs. View on Twease.org )
605280 - SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 (103 Overlapping PMIDs. View on Twease.org )
607584 - SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24 (102 Overlapping PMIDs. View on Twease.org )
108650 - ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS (96 Overlapping PMIDs. View on Twease.org )
270710 - FITZSIMMONS-GUILBERT SYNDROME (94 Overlapping PMIDs. View on Twease.org )
607259 - SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 (94 Overlapping PMIDs. View on Twease.org )
270805 - SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY (93 Overlapping PMIDs. View on Twease.org )
600302 - FRYNS MACROCEPHALY (93 Overlapping PMIDs. View on Twease.org )
607152 - SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19 (93 Overlapping PMIDs. View on Twease.org )
607565 - SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (91 Overlapping PMIDs. View on Twease.org )
610357 - SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 (90 Overlapping PMIDs. View on Twease.org )
300076 - IMMUNONEUROLOGIC DISORDER, X-LINKED (85 Overlapping PMIDs. View on Twease.org )
248900 - MAST SYNDROME (84 Overlapping PMIDs. View on Twease.org )
605229 - SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14 (82 Overlapping PMIDs. View on Twease.org )
610743 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 (74 Overlapping PMIDs. View on Twease.org )
270700 - SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 (68 Overlapping PMIDs. View on Twease.org )
312080 - PELIZAEUS-MERZBACHER DISEASE; PMD (51 Overlapping PMIDs. View on Twease.org )

+ IPI00329444 - acyl-CoA synthetase medium-chain family member 2B ACSM2B (19 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (581 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (579 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (568 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (551 Overlapping PMIDs. View on Twease.org )
611283 - ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (551 Overlapping PMIDs. View on Twease.org )
231530 - 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (550 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (539 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (538 Overlapping PMIDs. View on Twease.org )
609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (505 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (462 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (444 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (431 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (425 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (393 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (357 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (332 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (285 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (245 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (147 Overlapping PMIDs. View on Twease.org )

+ IPI00334599 - acyl-CoA synthetase medium-chain family member 2A ACSM2A (19 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (561 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (559 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (548 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (533 Overlapping PMIDs. View on Twease.org )
231530 - 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (533 Overlapping PMIDs. View on Twease.org )
611283 - ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (533 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (521 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (520 Overlapping PMIDs. View on Twease.org )
609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (487 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (451 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (431 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (418 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (412 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (380 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (348 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (323 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (278 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (237 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (142 Overlapping PMIDs. View on Twease.org )

+ IPI00644771 - acyl-CoA synthetase medium-chain family member 2A ACSM2A (19 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (561 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (559 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (548 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (533 Overlapping PMIDs. View on Twease.org )
231530 - 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (533 Overlapping PMIDs. View on Twease.org )
611283 - ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (533 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (521 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (520 Overlapping PMIDs. View on Twease.org )
609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (487 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (451 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (431 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (418 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (412 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (380 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (348 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (323 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (278 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (237 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (142 Overlapping PMIDs. View on Twease.org )

+ IPI00736776 - acyl-CoA synthetase medium-chain family member 2A ACSM2A (19 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (561 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (559 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (548 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (533 Overlapping PMIDs. View on Twease.org )
231530 - 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (533 Overlapping PMIDs. View on Twease.org )
611283 - ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (533 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (521 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (520 Overlapping PMIDs. View on Twease.org )
609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (487 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (451 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (431 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (418 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (412 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (380 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (348 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (323 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (278 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (237 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (142 Overlapping PMIDs. View on Twease.org )

+ IPI00739792 - acyl-CoA synthetase medium-chain family member 2B ACSM2B (19 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (581 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (579 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (568 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (551 Overlapping PMIDs. View on Twease.org )
611283 - ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (551 Overlapping PMIDs. View on Twease.org )
231530 - 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (550 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (539 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (538 Overlapping PMIDs. View on Twease.org )
609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (505 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (462 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (444 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (431 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (425 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (393 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (357 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (332 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (285 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (245 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (147 Overlapping PMIDs. View on Twease.org )

+ IPI00829974 - acyl-CoA synthetase medium-chain family member 2B ACSM2B (19 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (581 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (579 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (568 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (551 Overlapping PMIDs. View on Twease.org )
611283 - ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (551 Overlapping PMIDs. View on Twease.org )
231530 - 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (550 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (539 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (538 Overlapping PMIDs. View on Twease.org )
609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (505 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (462 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (444 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (431 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (425 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (393 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (357 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (332 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (285 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (245 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (147 Overlapping PMIDs. View on Twease.org )

+ IPI00306835 - Fukutin EC 2.-.-.- Fukuyama-type congenital muscular dystrophy protein . FCMD (17 diseases found)

181400 - AMYOTROPHY, SCAPULOPERONEAL (4301 Overlapping PMIDs. View on Twease.org )
123320 - CREATINE PHOSPHOKINASE, ELEVATED SERUM (4281 Overlapping PMIDs. View on Twease.org )
182970 - SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE (4046 Overlapping PMIDs. View on Twease.org )
310000 - MUSCULAR DYSTROPHY, MABRY TYPE (3777 Overlapping PMIDs. View on Twease.org )
253900 - MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS (3371 Overlapping PMIDs. View on Twease.org )
254100 - MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (3057 Overlapping PMIDs. View on Twease.org )
607855 - MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A (2113 Overlapping PMIDs. View on Twease.org )
601287 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F (2006 Overlapping PMIDs. View on Twease.org )
310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD (1893 Overlapping PMIDs. View on Twease.org )
606612 - MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C (1854 Overlapping PMIDs. View on Twease.org )
253700 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C (1774 Overlapping PMIDs. View on Twease.org )
608840 - MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D (1293 Overlapping PMIDs. View on Twease.org )
254000 - MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM (830 Overlapping PMIDs. View on Twease.org )
609940 - MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY (590 Overlapping PMIDs. View on Twease.org )
609524 - FILAMINOPATHY, AUTOSOMAL DOMINANT (400 Overlapping PMIDs. View on Twease.org )
607920 - CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY (354 Overlapping PMIDs. View on Twease.org )
601954 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G (153 Overlapping PMIDs. View on Twease.org )

+ IPI00645946 - Fukutin EC 2.-.-.- Fukuyama-type congenital muscular dystrophy protein . FCMD (17 diseases found)

181400 - AMYOTROPHY, SCAPULOPERONEAL (4301 Overlapping PMIDs. View on Twease.org )
123320 - CREATINE PHOSPHOKINASE, ELEVATED SERUM (4281 Overlapping PMIDs. View on Twease.org )
182970 - SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE (4046 Overlapping PMIDs. View on Twease.org )
310000 - MUSCULAR DYSTROPHY, MABRY TYPE (3777 Overlapping PMIDs. View on Twease.org )
253900 - MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS (3371 Overlapping PMIDs. View on Twease.org )
254100 - MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (3057 Overlapping PMIDs. View on Twease.org )
607855 - MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A (2113 Overlapping PMIDs. View on Twease.org )
601287 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F (2006 Overlapping PMIDs. View on Twease.org )
310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD (1893 Overlapping PMIDs. View on Twease.org )
606612 - MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C (1854 Overlapping PMIDs. View on Twease.org )
253700 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C (1774 Overlapping PMIDs. View on Twease.org )
608840 - MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D (1293 Overlapping PMIDs. View on Twease.org )
254000 - MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM (830 Overlapping PMIDs. View on Twease.org )
609940 - MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY (590 Overlapping PMIDs. View on Twease.org )
609524 - FILAMINOPATHY, AUTOSOMAL DOMINANT (400 Overlapping PMIDs. View on Twease.org )
607920 - CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY (354 Overlapping PMIDs. View on Twease.org )
601954 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G (153 Overlapping PMIDs. View on Twease.org )

+ IPI00447606 - Very-long-chain acyl-CoA synthetase EC 6.2.1.- VLCS Very-long- chain-fatty-acid-CoA ligase VLACS THCA-CoA ligase Fatty-acid- coenzyme A ligase very long-chain 1 Long-chain-fatty-acid--CoA ligase EC 6.2.1.3 Fatty acid transport protein 2 SLC27A2 (16 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (2790 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (2776 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (2540 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (2410 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2262 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2258 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (1791 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (1772 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1688 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1605 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1447 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1313 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1168 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (986 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (696 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (563 Overlapping PMIDs. View on Twease.org )

+ IPI00029737 - Long-chain-fatty-acid--CoA ligase 4 EC 6.2.1.3 Long-chain acyl-CoA synthetase 4 LACS 4 . ACSL4 (15 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (2285 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (2280 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (2073 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (1971 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (1840 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (1816 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (1478 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (1419 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1401 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1377 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1262 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1048 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1035 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (777 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (585 Overlapping PMIDs. View on Twease.org )

+ IPI00168435 - Clarin-3 Transmembrane protein 12 Usher syndrome type-3A-like protein 1 . CLRN3 (15 diseases found)

268315 - ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (152 Overlapping PMIDs. View on Twease.org )
276900 - USHER SYNDROME, TYPE I (146 Overlapping PMIDs. View on Twease.org )
276901 - USHER SYNDROME, TYPE IIA; USH2A (139 Overlapping PMIDs. View on Twease.org )
601067 - USHER SYNDROME, TYPE ID; USH1D (136 Overlapping PMIDs. View on Twease.org )
602092 - DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18 (132 Overlapping PMIDs. View on Twease.org )
609533 - DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 (132 Overlapping PMIDs. View on Twease.org )
201020 - ACROCEPHALOPOLYSYNDACTYLY TYPE IV (123 Overlapping PMIDs. View on Twease.org )
602097 - USHER SYNDROME, TYPE IE; USH1E (122 Overlapping PMIDs. View on Twease.org )
606528 - HOMOZYGOUS 11p15-p14 DELETION SYNDROME (112 Overlapping PMIDs. View on Twease.org )
276905 - USHER SYNDROME, TYPE IIB; USH2B (110 Overlapping PMIDs. View on Twease.org )
601386 - DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 (100 Overlapping PMIDs. View on Twease.org )
610220 - DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 (72 Overlapping PMIDs. View on Twease.org )
209900 - BARDET-BIEDL SYNDROME; BBS (30 Overlapping PMIDs. View on Twease.org )
221600 - DEAFNESS, NEURAL, EARLY ONSET (7 Overlapping PMIDs. View on Twease.org )
268010 - RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS (6 Overlapping PMIDs. View on Twease.org )

+ IPI00219897 - Long-chain-fatty-acid--CoA ligase 4 EC 6.2.1.3 Long-chain acyl-CoA synthetase 4 LACS 4 . ACSL4 (15 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (2285 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (2280 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (2073 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (1971 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (1840 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (1816 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (1478 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (1419 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1401 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1377 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1262 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1048 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1035 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (777 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (585 Overlapping PMIDs. View on Twease.org )

+ IPI00551062 - trinucleotide repeat containing 5 TNRC5 (15 diseases found)

140340 - HAW RIVER SYNDROME (1003 Overlapping PMIDs. View on Twease.org )
602668 - DYSTROPHIA MYOTONICA 2; DM2 (727 Overlapping PMIDs. View on Twease.org )
607136 - SPINOCEREBELLAR ATAXIA 17; SCA17 (694 Overlapping PMIDs. View on Twease.org )
125370 - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA (614 Overlapping PMIDs. View on Twease.org )
160900 - DYSTROPHIA MYOTONICA 1 (602 Overlapping PMIDs. View on Twease.org )
607565 - SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (601 Overlapping PMIDs. View on Twease.org )
313200 - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 (587 Overlapping PMIDs. View on Twease.org )
164500 - SPINOCEREBELLAR ATAXIA 7; SCA7 (423 Overlapping PMIDs. View on Twease.org )
604802 - HUNTINGTON DISEASE-LIKE 3; HDL3 (315 Overlapping PMIDs. View on Twease.org )
183086 - SPINOCEREBELLAR ATAXIA 6; SCA6 (305 Overlapping PMIDs. View on Twease.org )
164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 (287 Overlapping PMIDs. View on Twease.org )
109150 - MACHADO-JOSEPH DISEASE; MJD (230 Overlapping PMIDs. View on Twease.org )
183090 - SPINOCEREBELLAR ATAXIA 2; SCA2 (158 Overlapping PMIDs. View on Twease.org )
607454 - SPINOCEREBELLAR ATAXIA 21; SCA21 (115 Overlapping PMIDs. View on Twease.org )
608687 - SPINOCEREBELLAR ATAXIA 20; SCA20 (57 Overlapping PMIDs. View on Twease.org )

+ IPI00828019 - Clarin-3 Transmembrane protein 12 Usher syndrome type-3A-like protein 1 . CLRN3 (15 diseases found)

268315 - ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (152 Overlapping PMIDs. View on Twease.org )
276900 - USHER SYNDROME, TYPE I (146 Overlapping PMIDs. View on Twease.org )
276901 - USHER SYNDROME, TYPE IIA; USH2A (139 Overlapping PMIDs. View on Twease.org )
601067 - USHER SYNDROME, TYPE ID; USH1D (136 Overlapping PMIDs. View on Twease.org )
602092 - DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18 (132 Overlapping PMIDs. View on Twease.org )
609533 - DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 (132 Overlapping PMIDs. View on Twease.org )
201020 - ACROCEPHALOPOLYSYNDACTYLY TYPE IV (123 Overlapping PMIDs. View on Twease.org )
602097 - USHER SYNDROME, TYPE IE; USH1E (122 Overlapping PMIDs. View on Twease.org )
606528 - HOMOZYGOUS 11p15-p14 DELETION SYNDROME (112 Overlapping PMIDs. View on Twease.org )
276905 - USHER SYNDROME, TYPE IIB; USH2B (110 Overlapping PMIDs. View on Twease.org )
601386 - DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 (100 Overlapping PMIDs. View on Twease.org )
610220 - DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 (72 Overlapping PMIDs. View on Twease.org )
209900 - BARDET-BIEDL SYNDROME; BBS (30 Overlapping PMIDs. View on Twease.org )
221600 - DEAFNESS, NEURAL, EARLY ONSET (7 Overlapping PMIDs. View on Twease.org )
268010 - RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS (6 Overlapping PMIDs. View on Twease.org )

+ IPI00470637 - Long-chain fatty acid transport protein 6 Fatty acid transport protein 6 FATP-6 Very long-chain acyl-CoA synthetase homolog 1 VLCSH1 hVLCS-H1 Fatty-acid-coenzyme A ligase very long-chain 2 Solute carrier family 27 member 6 . SLC27A6 (14 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (3130 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (3123 Overlapping PMIDs. View on Twease.org )
611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (2839 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (2547 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2375 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2361 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (1833 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1727 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1639 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1486 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1333 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1210 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1018 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (692 Overlapping PMIDs. View on Twease.org )

+ IPI00218718 - Long-chain-fatty-acid--CoA ligase 6 EC 6.2.1.3 Long-chain acyl-CoA synthetase 6 LACS 6 . ACSL6 (13 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (3587 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (3579 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (2893 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2670 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2625 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2051 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1958 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1917 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1769 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1481 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1395 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1105 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (865 Overlapping PMIDs. View on Twease.org )

+ IPI00657816 - Long-chain-fatty-acid--CoA ligase 6 EC 6.2.1.3 Long-chain acyl-CoA synthetase 6 LACS 6 . ACSL6 (13 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (3587 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (3579 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (2893 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2670 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2625 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2051 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1958 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1917 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1769 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1481 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1395 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1105 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (865 Overlapping PMIDs. View on Twease.org )

+ IPI00657818 - Long-chain-fatty-acid--CoA ligase 6 EC 6.2.1.3 Long-chain acyl-CoA synthetase 6 LACS 6 . ACSL6 (13 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (3587 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (3579 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (2893 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2670 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2625 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2051 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1958 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1917 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1769 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1481 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1395 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1105 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (865 Overlapping PMIDs. View on Twease.org )

+ IPI00657981 - Long-chain-fatty-acid--CoA ligase 6 EC 6.2.1.3 Long-chain acyl-CoA synthetase 6 LACS 6 . ACSL6 (13 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (3587 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (3579 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (2893 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2670 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2625 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2051 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1958 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1917 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1769 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1481 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1395 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1105 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (865 Overlapping PMIDs. View on Twease.org )

+ IPI00795177 - Long-chain-fatty-acid--CoA ligase 6 EC 6.2.1.3 Long-chain acyl-CoA synthetase 6 LACS 6 . ACSL6 (13 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (3587 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (3579 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (2893 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2670 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2625 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2051 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1958 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1917 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1769 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1481 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1395 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1105 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (865 Overlapping PMIDs. View on Twease.org )

+ IPI00012728 - Long-chain-fatty-acid--CoA ligase 1 EC 6.2.1.3 Long-chain acyl-CoA synthetase 1 LACS 1 Palmitoyl-CoA ligase 1 Long-chain fatty acid CoA ligase 2 Long-chain acyl-CoA synthetase 2 LACS 2 Acyl-CoA synthetase 1 ACS1 Palmitoyl-CoA ligase 2 . ACSL1 (12 diseases found)

264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (4031 Overlapping PMIDs. View on Twease.org )
201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (4021 Overlapping PMIDs. View on Twease.org )
201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (3146 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (2961 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2831 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (2094 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (2059 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (1905 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1552 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1467 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1180 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (920 Overlapping PMIDs. View on Twease.org )

+ IPI00020903 - AF4 FMR2 family member 2 Fragile X mental retardation 2 protein Protein FMR-2 FMR2P Protein Ox19 Fragile X E mental retardation syndrome protein . AFF2 (12 diseases found)

606851 - CREE MENTAL RETARDATION SYNDROME (2291 Overlapping PMIDs. View on Twease.org )
227250 - FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (1985 Overlapping PMIDs. View on Twease.org )
212120 - CARDIOGENITAL SYNDROME (1756 Overlapping PMIDs. View on Twease.org )
311400 - PAINE SYNDROME (1742 Overlapping PMIDs. View on Twease.org )
229120 - FOUNTAIN SYNDROME (1582 Overlapping PMIDs. View on Twease.org )
172850 - PIEBALD TRAIT WITH NEUROLOGIC DEFECTS (1525 Overlapping PMIDs. View on Twease.org )
300624 - FRAGILE X MENTAL RETARDATION SYNDROME (993 Overlapping PMIDs. View on Twease.org )
300551 - MENTAL RETARDATION, X-LINKED 78; MRX78 (992 Overlapping PMIDs. View on Twease.org )
300055 - MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM (980 Overlapping PMIDs. View on Twease.org )
218650 - CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (614 Overlapping PMIDs. View on Twease.org )
243050 - INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION (375 Overlapping PMIDs. View on Twease.org )
156200 - MENTAL RETARDATION, DOMINANT (206 Overlapping PMIDs. View on Twease.org )

+ IPI00028031 - Very-long-chain specific acyl-CoA dehydrogenase mitochondrial precursor EC 1.3.99.- VLCAD . ACADVL (12 diseases found)

201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (3732 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (3380 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (3310 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2647 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (2607 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (2591 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (2176 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (2017 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (1630 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1583 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1535 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (1374 Overlapping PMIDs. View on Twease.org )

+ IPI00171687 - Bestrophin-2 Vitelliform macular dystrophy 2-like protein 1 . BEST2 (12 diseases found)

153870 - MACULAR DYSTROPHY, CONCENTRIC ANNULAR (523 Overlapping PMIDs. View on Twease.org )
302000 - BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE (518 Overlapping PMIDs. View on Twease.org )
608970 - MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2 (444 Overlapping PMIDs. View on Twease.org )
248200 - STARGARDT DISEASE 1; STGD1 (389 Overlapping PMIDs. View on Twease.org )
153840 - MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1 (350 Overlapping PMIDs. View on Twease.org )
153700 - MACULAR DYSTROPHY, VITELLIFORM; VMD (335 Overlapping PMIDs. View on Twease.org )
153890 - MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE (311 Overlapping PMIDs. View on Twease.org )
204110 - AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS (300 Overlapping PMIDs. View on Twease.org )
268080 - RETINOSCHISIS OF FOVEA (255 Overlapping PMIDs. View on Twease.org )
607475 - BOTHNIA RETINAL DYSTROPHY (253 Overlapping PMIDs. View on Twease.org )
611040 - MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN (189 Overlapping PMIDs. View on Twease.org )
179840 - RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM (165 Overlapping PMIDs. View on Twease.org )

+ IPI00176920 - Nephrocystin-4 Nephroretinin . NPHP4 (12 diseases found)

609254 - SENIOR-LOKEN SYNDROME 5; SLSN5 (43 Overlapping PMIDs. View on Twease.org )
610188 - JOUBERT SYNDROME 5; JBTS5 (43 Overlapping PMIDs. View on Twease.org )
256100 - NEPHRONOPHTHISIS 1; NPHP1 (40 Overlapping PMIDs. View on Twease.org )
610189 - SENIOR-LOKEN SYNDROME 6; SLSN6 (38 Overlapping PMIDs. View on Twease.org )
266900 - SENIOR-LOKEN SYNDROME 1; SLSN1 (36 Overlapping PMIDs. View on Twease.org )
611263 - ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 (34 Overlapping PMIDs. View on Twease.org )
263200 - POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD (32 Overlapping PMIDs. View on Twease.org )
609583 - JOUBERT SYNDROME 4; JBTS4 (21 Overlapping PMIDs. View on Twease.org )
606996 - SENIOR-LOKEN SYNDROME 4; SLSN4 (20 Overlapping PMIDs. View on Twease.org )
611134 - MECKEL SYNDROME, TYPE 4; MKS4 (15 Overlapping PMIDs. View on Twease.org )
606995 - SENIOR-LOKEN SYNDROME 3; SLSN3 (14 Overlapping PMIDs. View on Twease.org )
610688 - JOUBERT SYNDROME 6; JBTS6 (7 Overlapping PMIDs. View on Twease.org )

+ IPI00178744 - Very-long-chain specific acyl-CoA dehydrogenase mitochondrial precursor EC 1.3.99.- VLCAD . ACADVL (12 diseases found)

201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (3732 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (3380 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (3310 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2647 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (2607 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (2591 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (2176 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (2017 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (1630 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1583 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1535 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (1374 Overlapping PMIDs. View on Twease.org )

+ IPI00178914 - AF4 FMR2 family member 2 Fragile X mental retardation 2 protein Protein FMR-2 FMR2P Protein Ox19 Fragile X E mental retardation syndrome protein . AFF2 (12 diseases found)

606851 - CREE MENTAL RETARDATION SYNDROME (2291 Overlapping PMIDs. View on Twease.org )
227250 - FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (1985 Overlapping PMIDs. View on Twease.org )
212120 - CARDIOGENITAL SYNDROME (1756 Overlapping PMIDs. View on Twease.org )
311400 - PAINE SYNDROME (1742 Overlapping PMIDs. View on Twease.org )
229120 - FOUNTAIN SYNDROME (1582 Overlapping PMIDs. View on Twease.org )
172850 - PIEBALD TRAIT WITH NEUROLOGIC DEFECTS (1525 Overlapping PMIDs. View on Twease.org )
300624 - FRAGILE X MENTAL RETARDATION SYNDROME (993 Overlapping PMIDs. View on Twease.org )
300551 - MENTAL RETARDATION, X-LINKED 78; MRX78 (992 Overlapping PMIDs. View on Twease.org )
300055 - MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM (980 Overlapping PMIDs. View on Twease.org )
218650 - CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (614 Overlapping PMIDs. View on Twease.org )
243050 - INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION (375 Overlapping PMIDs. View on Twease.org )
156200 - MENTAL RETARDATION, DOMINANT (206 Overlapping PMIDs. View on Twease.org )

+ IPI00221389 - AF4 FMR2 family member 2 Fragile X mental retardation 2 protein Protein FMR-2 FMR2P Protein Ox19 Fragile X E mental retardation syndrome protein . AFF2 (12 diseases found)

606851 - CREE MENTAL RETARDATION SYNDROME (2291 Overlapping PMIDs. View on Twease.org )
227250 - FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (1985 Overlapping PMIDs. View on Twease.org )
212120 - CARDIOGENITAL SYNDROME (1756 Overlapping PMIDs. View on Twease.org )
311400 - PAINE SYNDROME (1742 Overlapping PMIDs. View on Twease.org )
229120 - FOUNTAIN SYNDROME (1582 Overlapping PMIDs. View on Twease.org )
172850 - PIEBALD TRAIT WITH NEUROLOGIC DEFECTS (1525 Overlapping PMIDs. View on Twease.org )
300624 - FRAGILE X MENTAL RETARDATION SYNDROME (993 Overlapping PMIDs. View on Twease.org )
300551 - MENTAL RETARDATION, X-LINKED 78; MRX78 (992 Overlapping PMIDs. View on Twease.org )
300055 - MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM (980 Overlapping PMIDs. View on Twease.org )
218650 - CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (614 Overlapping PMIDs. View on Twease.org )
243050 - INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION (375 Overlapping PMIDs. View on Twease.org )
156200 - MENTAL RETARDATION, DOMINANT (206 Overlapping PMIDs. View on Twease.org )

+ IPI00793599 - Very-long-chain specific acyl-CoA dehydrogenase mitochondrial precursor EC 1.3.99.- VLCAD . ACADVL (12 diseases found)

201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (3732 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (3380 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (3310 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2647 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (2607 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (2591 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (2176 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (2017 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (1630 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1583 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1535 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (1374 Overlapping PMIDs. View on Twease.org )

+ IPI00796120 - Very-long-chain specific acyl-CoA dehydrogenase mitochondrial precursor EC 1.3.99.- VLCAD . ACADVL (12 diseases found)

201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (3732 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (3380 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (3310 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2647 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (2607 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (2591 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (2176 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (2017 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (1630 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1583 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1535 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (1374 Overlapping PMIDs. View on Twease.org )

+ IPI00816362 - Nephrocystin-4 Nephroretinin . NPHP4 (12 diseases found)

609254 - SENIOR-LOKEN SYNDROME 5; SLSN5 (43 Overlapping PMIDs. View on Twease.org )
610188 - JOUBERT SYNDROME 5; JBTS5 (43 Overlapping PMIDs. View on Twease.org )
256100 - NEPHRONOPHTHISIS 1; NPHP1 (40 Overlapping PMIDs. View on Twease.org )
610189 - SENIOR-LOKEN SYNDROME 6; SLSN6 (38 Overlapping PMIDs. View on Twease.org )
266900 - SENIOR-LOKEN SYNDROME 1; SLSN1 (36 Overlapping PMIDs. View on Twease.org )
611263 - ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 (34 Overlapping PMIDs. View on Twease.org )
263200 - POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD (32 Overlapping PMIDs. View on Twease.org )
609583 - JOUBERT SYNDROME 4; JBTS4 (21 Overlapping PMIDs. View on Twease.org )
606996 - SENIOR-LOKEN SYNDROME 4; SLSN4 (20 Overlapping PMIDs. View on Twease.org )
611134 - MECKEL SYNDROME, TYPE 4; MKS4 (15 Overlapping PMIDs. View on Twease.org )
606995 - SENIOR-LOKEN SYNDROME 3; SLSN3 (14 Overlapping PMIDs. View on Twease.org )
610688 - JOUBERT SYNDROME 6; JBTS6 (7 Overlapping PMIDs. View on Twease.org )

+ IPI00024993 - Enoyl-CoA hydratase mitochondrial precursor EC 4.2.1.17 Short chain enoyl-CoA hydratase SCEH Enoyl-CoA hydratase 1 . ECHS1 (11 diseases found)

609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (1192 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (1104 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (899 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (834 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (705 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (650 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (629 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (534 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (505 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (459 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (411 Overlapping PMIDs. View on Twease.org )

+ IPI00552730 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (11 diseases found)

607831 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K (13 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (12 Overlapping PMIDs. View on Twease.org )
118301 - CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (11 Overlapping PMIDs. View on Twease.org )
607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (11 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (11 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (10 Overlapping PMIDs. View on Twease.org )
611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (9 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (8 Overlapping PMIDs. View on Twease.org )
302801 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 (8 Overlapping PMIDs. View on Twease.org )
302802 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 (8 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (7 Overlapping PMIDs. View on Twease.org )

+ IPI00642329 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (11 diseases found)

607831 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K (13 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (12 Overlapping PMIDs. View on Twease.org )
118301 - CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (11 Overlapping PMIDs. View on Twease.org )
607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (11 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (11 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (10 Overlapping PMIDs. View on Twease.org )
611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (9 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (8 Overlapping PMIDs. View on Twease.org )
302801 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 (8 Overlapping PMIDs. View on Twease.org )
302802 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 (8 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (7 Overlapping PMIDs. View on Twease.org )

+ IPI00789024 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (11 diseases found)

607831 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K (13 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (12 Overlapping PMIDs. View on Twease.org )
118301 - CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (11 Overlapping PMIDs. View on Twease.org )
607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (11 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (11 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (10 Overlapping PMIDs. View on Twease.org )
611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (9 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (8 Overlapping PMIDs. View on Twease.org )
302801 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 (8 Overlapping PMIDs. View on Twease.org )
302802 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 (8 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (7 Overlapping PMIDs. View on Twease.org )

+ IPI00791338 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (11 diseases found)

607831 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K (13 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (12 Overlapping PMIDs. View on Twease.org )
118301 - CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (11 Overlapping PMIDs. View on Twease.org )
607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (11 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (11 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (10 Overlapping PMIDs. View on Twease.org )
611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (9 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (8 Overlapping PMIDs. View on Twease.org )
302801 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 (8 Overlapping PMIDs. View on Twease.org )
302802 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 (8 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (7 Overlapping PMIDs. View on Twease.org )

+ IPI00847259 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (11 diseases found)

607831 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K (13 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (12 Overlapping PMIDs. View on Twease.org )
118301 - CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (11 Overlapping PMIDs. View on Twease.org )
607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (11 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (11 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (10 Overlapping PMIDs. View on Twease.org )
611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (9 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (8 Overlapping PMIDs. View on Twease.org )
302801 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 (8 Overlapping PMIDs. View on Twease.org )
302802 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 (8 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (7 Overlapping PMIDs. View on Twease.org )

+ IPI00005040 - Medium-chain specific acyl-CoA dehydrogenase mitochondrial precursor EC 1.3.99.3 MCAD . ACADM (10 diseases found)

201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (3872 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (3464 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (3337 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (2667 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (2620 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (2190 Overlapping PMIDs. View on Twease.org )
214100 - ZELLWEGER SYNDROME; ZS (2008 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1608 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (1530 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (1391 Overlapping PMIDs. View on Twease.org )

+ IPI00160265 - Trinucleotide repeat-containing gene 6A protein CAG repeat protein 26 Glycine-tryptophan protein of 182 kDa GW182 autoantigen Protein GW1 EMSY interactor protein . TNRC6A (10 diseases found)

313200 - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 (1406 Overlapping PMIDs. View on Twease.org )
125370 - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA (1394 Overlapping PMIDs. View on Twease.org )
607565 - SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (1169 Overlapping PMIDs. View on Twease.org )
164500 - SPINOCEREBELLAR ATAXIA 7; SCA7 (940 Overlapping PMIDs. View on Twease.org )
183086 - SPINOCEREBELLAR ATAXIA 6; SCA6 (689 Overlapping PMIDs. View on Twease.org )
164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 (632 Overlapping PMIDs. View on Twease.org )
109150 - MACHADO-JOSEPH DISEASE; MJD (558 Overlapping PMIDs. View on Twease.org )
183090 - SPINOCEREBELLAR ATAXIA 2; SCA2 (457 Overlapping PMIDs. View on Twease.org )
607454 - SPINOCEREBELLAR ATAXIA 21; SCA21 (350 Overlapping PMIDs. View on Twease.org )
608687 - SPINOCEREBELLAR ATAXIA 20; SCA20 (158 Overlapping PMIDs. View on Twease.org )

+ IPI00395878 - Trinucleotide repeat-containing gene 6A protein CAG repeat protein 26 Glycine-tryptophan protein of 182 kDa GW182 autoantigen Protein GW1 EMSY interactor protein . TNRC6A (10 diseases found)

313200 - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 (1406 Overlapping PMIDs. View on Twease.org )
125370 - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA (1394 Overlapping PMIDs. View on Twease.org )
607565 - SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (1169 Overlapping PMIDs. View on Twease.org )
164500 - SPINOCEREBELLAR ATAXIA 7; SCA7 (940 Overlapping PMIDs. View on Twease.org )
183086 - SPINOCEREBELLAR ATAXIA 6; SCA6 (689 Overlapping PMIDs. View on Twease.org )
164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 (632 Overlapping PMIDs. View on Twease.org )
109150 - MACHADO-JOSEPH DISEASE; MJD (558 Overlapping PMIDs. View on Twease.org )
183090 - SPINOCEREBELLAR ATAXIA 2; SCA2 (457 Overlapping PMIDs. View on Twease.org )
607454 - SPINOCEREBELLAR ATAXIA 21; SCA21 (350 Overlapping PMIDs. View on Twease.org )
608687 - SPINOCEREBELLAR ATAXIA 20; SCA20 (158 Overlapping PMIDs. View on Twease.org )

+ IPI00554606 - Trinucleotide repeat-containing gene 6A protein CAG repeat protein 26 Glycine-tryptophan protein of 182 kDa GW182 autoantigen Protein GW1 EMSY interactor protein . TNRC6A (10 diseases found)

313200 - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 (1406 Overlapping PMIDs. View on Twease.org )
125370 - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA (1394 Overlapping PMIDs. View on Twease.org )
607565 - SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (1169 Overlapping PMIDs. View on Twease.org )
164500 - SPINOCEREBELLAR ATAXIA 7; SCA7 (940 Overlapping PMIDs. View on Twease.org )
183086 - SPINOCEREBELLAR ATAXIA 6; SCA6 (689 Overlapping PMIDs. View on Twease.org )
164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 (632 Overlapping PMIDs. View on Twease.org )
109150 - MACHADO-JOSEPH DISEASE; MJD (558 Overlapping PMIDs. View on Twease.org )
183090 - SPINOCEREBELLAR ATAXIA 2; SCA2 (457 Overlapping PMIDs. View on Twease.org )
607454 - SPINOCEREBELLAR ATAXIA 21; SCA21 (350 Overlapping PMIDs. View on Twease.org )
608687 - SPINOCEREBELLAR ATAXIA 20; SCA20 (158 Overlapping PMIDs. View on Twease.org )

+ IPI00004550 - keratin 24 KRT24 (8 diseases found)

146590 - ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM (182 Overlapping PMIDs. View on Twease.org )
131800 - EPIDERMOLYSIS BULLOSA OF HANDS AND FEET (175 Overlapping PMIDs. View on Twease.org )
173200 - PITYRIASIS RUBRA PILARIS (77 Overlapping PMIDs. View on Twease.org )
609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (41 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (27 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (17 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (12 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (6 Overlapping PMIDs. View on Twease.org )

+ IPI00294398 - Hydroxyacyl-coenzyme A dehydrogenase mitochondrial precursor EC 1.1.1.35 Short chain 3-hydroxyacyl-CoA dehydrogenase HCDH Medium and short chain L-3-hydroxyacyl-coenzyme A dehydrogenase . HADH (8 diseases found)

609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (2360 Overlapping PMIDs. View on Twease.org )
602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (2060 Overlapping PMIDs. View on Twease.org )
201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (1661 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (1608 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (1491 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (1332 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (1072 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (898 Overlapping PMIDs. View on Twease.org )

+ IPI00552959 - type I hair keratin KA36 KRT40 (8 diseases found)

158000 - MONILETHRIX (214 Overlapping PMIDs. View on Twease.org )
609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (88 Overlapping PMIDs. View on Twease.org )
607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (45 Overlapping PMIDs. View on Twease.org )
607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (38 Overlapping PMIDs. View on Twease.org )
601345 - ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE (30 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (24 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (13 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (7 Overlapping PMIDs. View on Twease.org )

+ IPI00847964 - type I hair keratin KA36 KRT40 (8 diseases found)

158000 - MONILETHRIX (214 Overlapping PMIDs. View on Twease.org )
609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (88 Overlapping PMIDs. View on Twease.org )
607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (45 Overlapping PMIDs. View on Twease.org )
607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (38 Overlapping PMIDs. View on Twease.org )
601345 - ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE (30 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (24 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (13 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (7 Overlapping PMIDs. View on Twease.org )

+ IPI00024853 - Periaxin. PRX (7 diseases found)

607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (32 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (29 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (27 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (26 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (25 Overlapping PMIDs. View on Twease.org )
605588 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (25 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (25 Overlapping PMIDs. View on Twease.org )

+ IPI00107719 - bubblegum related protein ACSBG2 (7 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (7 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (7 Overlapping PMIDs. View on Twease.org )
300387 - MENTAL RETARDATION, X-LINKED 63; MRX63 (6 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (5 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (5 Overlapping PMIDs. View on Twease.org )
300100 - ADRENOLEUKODYSTROPHY; ALD (5 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (5 Overlapping PMIDs. View on Twease.org )

+ IPI00217439 - Codanin-1. CDAN1 (7 diseases found)

105600 - ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3 (9 Overlapping PMIDs. View on Twease.org )
224100 - ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 (9 Overlapping PMIDs. View on Twease.org )
224120 - ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I (9 Overlapping PMIDs. View on Twease.org )
611102 - DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY (9 Overlapping PMIDs. View on Twease.org )
603529 - DYSERYTHROPOIESIS, CONGENITAL, WITH INTERNUCLEAR CHROMATIN BRIDGES AND ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN (8 Overlapping PMIDs. View on Twease.org )
609628 - MAJEED SYNDROME (8 Overlapping PMIDs. View on Twease.org )
610629 - DIAMOND-BLACKFAN ANEMIA 3 (7 Overlapping PMIDs. View on Twease.org )

+ IPI00221069 - Periaxin. PRX (7 diseases found)

607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (32 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (29 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (27 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (26 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (25 Overlapping PMIDs. View on Twease.org )
605588 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (25 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (25 Overlapping PMIDs. View on Twease.org )

+ IPI00642502 - bubblegum related protein ACSBG2 (7 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (7 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (7 Overlapping PMIDs. View on Twease.org )
300387 - MENTAL RETARDATION, X-LINKED 63; MRX63 (6 Overlapping PMIDs. View on Twease.org )
201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (5 Overlapping PMIDs. View on Twease.org )
266510 - REFSUM DISEASE, INFANTILE FORM (5 Overlapping PMIDs. View on Twease.org )
300100 - ADRENOLEUKODYSTROPHY; ALD (5 Overlapping PMIDs. View on Twease.org )
300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (5 Overlapping PMIDs. View on Twease.org )

+ IPI00744417 - Periaxin. PRX (7 diseases found)

607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (32 Overlapping PMIDs. View on Twease.org )
608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (29 Overlapping PMIDs. View on Twease.org )
605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (27 Overlapping PMIDs. View on Twease.org )
118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (26 Overlapping PMIDs. View on Twease.org )
118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (25 Overlapping PMIDs. View on Twease.org )
605588 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (25 Overlapping PMIDs. View on Twease.org )
610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (25 Overlapping PMIDs. View on Twease.org )

+ IPI00032099 - Pseudokinase ALS2CR2 Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein STRAD beta ILP-interacting protein CALS-21 . (6 diseases found)

205200 - AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA (2050 Overlapping PMIDs. View on Twease.org )
205250 - AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES (2015 Overlapping PMIDs. View on Twease.org )
105550 - AMYOTROPHIC LATERAL SCLEROSIS WITH FRONTOTEMPORAL DEMENTIA (2009 Overlapping PMIDs. View on Twease.org )
608627 - AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 (1467 Overlapping PMIDs. View on Twease.org )
606640 - AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 (1190 Overlapping PMIDs. View on Twease.org )
105400 - AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 (1174 Overlapping PMIDs. View on Twease.org )

+ IPI00043516 - zinc finger protein 407 ZNF407 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (946 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (835 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (782 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (451 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (358 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (219 Overlapping PMIDs. View on Twease.org )

+ IPI00044689 - zinc finger protein 321 ZNF321 ZNF816A (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (960 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (846 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (793 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (458 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (360 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (219 Overlapping PMIDs. View on Twease.org )

+ IPI00099531 - zinc finger protein 271 ZNF271 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (939 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (830 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (775 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (447 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (357 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (216 Overlapping PMIDs. View on Twease.org )

+ IPI00217934 - zinc finger protein 521 ZNF521 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (975 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (860 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (805 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (467 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (367 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (222 Overlapping PMIDs. View on Twease.org )

+ IPI00300073 - zinc finger protein 589 ZNF589 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (985 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (867 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (812 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (470 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (368 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (223 Overlapping PMIDs. View on Twease.org )

+ IPI00396098 - zinc finger protein 800 ZNF800 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (857 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (764 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (718 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (414 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (329 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (206 Overlapping PMIDs. View on Twease.org )

+ IPI00397845 - Keratin-associated protein 26-1. (6 diseases found)

173200 - PITYRIASIS RUBRA PILARIS (131 Overlapping PMIDs. View on Twease.org )
609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (70 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (45 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (32 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (32 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (14 Overlapping PMIDs. View on Twease.org )

+ IPI00418560 - zinc finger protein 793 ZNF793 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (996 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (875 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (820 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (473 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (371 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (226 Overlapping PMIDs. View on Twease.org )

+ IPI00477949 - zinc finger protein 262 ZMYM4 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (938 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (828 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (774 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (447 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (354 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (216 Overlapping PMIDs. View on Twease.org )

+ IPI00514122 - Pseudokinase ALS2CR2 Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein STRAD beta ILP-interacting protein CALS-21 . (6 diseases found)

205200 - AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA (2050 Overlapping PMIDs. View on Twease.org )
205250 - AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES (2015 Overlapping PMIDs. View on Twease.org )
105550 - AMYOTROPHIC LATERAL SCLEROSIS WITH FRONTOTEMPORAL DEMENTIA (2009 Overlapping PMIDs. View on Twease.org )
608627 - AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 (1467 Overlapping PMIDs. View on Twease.org )
606640 - AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 (1190 Overlapping PMIDs. View on Twease.org )
105400 - AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 (1174 Overlapping PMIDs. View on Twease.org )

+ IPI00514866 - zinc finger protein 124 ZNF124 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (908 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (809 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (756 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (435 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (346 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (213 Overlapping PMIDs. View on Twease.org )

+ IPI00642195 - zinc finger protein 262 ZMYM4 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (938 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (828 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (774 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (447 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (354 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (216 Overlapping PMIDs. View on Twease.org )

+ IPI00657898 - zinc finger protein 800 ZNF800 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (857 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (764 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (718 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (414 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (329 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (206 Overlapping PMIDs. View on Twease.org )

+ IPI00657901 - Pseudokinase ALS2CR2 Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein STRAD beta ILP-interacting protein CALS-21 . (6 diseases found)

205200 - AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA (2050 Overlapping PMIDs. View on Twease.org )
205250 - AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES (2015 Overlapping PMIDs. View on Twease.org )
105550 - AMYOTROPHIC LATERAL SCLEROSIS WITH FRONTOTEMPORAL DEMENTIA (2009 Overlapping PMIDs. View on Twease.org )
608627 - AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 (1467 Overlapping PMIDs. View on Twease.org )
606640 - AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 (1190 Overlapping PMIDs. View on Twease.org )
105400 - AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 (1174 Overlapping PMIDs. View on Twease.org )

+ IPI00657940 - zinc finger protein 800 ZNF800 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (857 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (764 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (718 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (414 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (329 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (206 Overlapping PMIDs. View on Twease.org )

+ IPI00658041 - Pseudokinase ALS2CR2 Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein STRAD beta ILP-interacting protein CALS-21 . (6 diseases found)

205200 - AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA (2050 Overlapping PMIDs. View on Twease.org )
205250 - AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES (2015 Overlapping PMIDs. View on Twease.org )
105550 - AMYOTROPHIC LATERAL SCLEROSIS WITH FRONTOTEMPORAL DEMENTIA (2009 Overlapping PMIDs. View on Twease.org )
608627 - AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 (1467 Overlapping PMIDs. View on Twease.org )
606640 - AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 (1190 Overlapping PMIDs. View on Twease.org )
105400 - AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 (1174 Overlapping PMIDs. View on Twease.org )

+ IPI00748303 - zinc finger RNA binding protein ZFR (6 diseases found)

194470 - ZINC, ELEVATED PLASMA (215 Overlapping PMIDs. View on Twease.org )
603282 - ZINC FINGER PROTEIN 204; ZNF204 (212 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (196 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (177 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (92 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (74 Overlapping PMIDs. View on Twease.org )

+ IPI00790428 - zinc finger protein 800 ZNF800 (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (857 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (764 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (718 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (414 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (329 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (206 Overlapping PMIDs. View on Twease.org )

+ IPI00853564 - zinc finger protein 321 ZNF321 ZNF816A (6 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (960 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (846 Overlapping PMIDs. View on Twease.org )
125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (793 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (458 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (360 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (219 Overlapping PMIDs. View on Twease.org )

+ IPI00000845 - Dystrobrevin alpha Dystrobrevin-alpha Dystrophin-related protein 3 . DTNA (5 diseases found)

603323 - MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY (700 Overlapping PMIDs. View on Twease.org )
310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD (509 Overlapping PMIDs. View on Twease.org )
300376 - MUSCULAR DYSTROPHY, BECKER TYPE; BMD (486 Overlapping PMIDs. View on Twease.org )
253700 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C (476 Overlapping PMIDs. View on Twease.org )
608765 - SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 (166 Overlapping PMIDs. View on Twease.org )

+ IPI00006608 - Amyloid beta A4 protein precursor APP ABPP Alzheimer disease amyloid protein Cerebral vascular amyloid peptide CVAP Protease nexin-II PN-II APPI PreA4 APP (5 diseases found)

147421 - INCLUSION BODY MYOSITIS (4379 Overlapping PMIDs. View on Twease.org )
105200 - AMYLOIDOSIS, FAMILIAL VISCERAL (4334 Overlapping PMIDs. View on Twease.org )
605055 - ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY (3396 Overlapping PMIDs. View on Twease.org )
104300 - ALZHEIMER DISEASE; AD (2950 Overlapping PMIDs. View on Twease.org )
105150 - AMYLOIDOSIS VI (2230 Overlapping PMIDs. View on Twease.org )

+ IPI00008219 - UV excision repair protein RAD23 homolog A hHR23A . RAD23A (5 diseases found)

278750 - XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV (4882 Overlapping PMIDs. View on Twease.org )
216400 - COCKAYNE SYNDROME, TYPE A; CSA (3074 Overlapping PMIDs. View on Twease.org )
600630 - UV-SENSITIVE SYNDROME; UVS (3050 Overlapping PMIDs. View on Twease.org )
610758 - CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 (1346 Overlapping PMIDs. View on Twease.org )
610756 - CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2 (282 Overlapping PMIDs. View on Twease.org )

+ IPI00008692 - Keratin type I cuticular Ha6 Hair keratin type I Ha6 . KRT36 (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (393 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (263 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (158 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (140 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (64 Overlapping PMIDs. View on Twease.org )

+ IPI00017726 - 3-hydroxyacyl-CoA dehydrogenase type-2 EC 1.1.1.35 3-hydroxyacyl- CoA dehydrogenase type II Type II HADH 3-hydroxy-2-methylbutyryl- CoA dehydrogenase EC 1.1.1.178 Endoplasmic reticulum-associated amyloid beta-peptide-binding protein Short-cha HSD17B10 (5 diseases found)

609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (265 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (237 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (188 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (134 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (131 Overlapping PMIDs. View on Twease.org )

+ IPI00018002 - zinc finger CCCH-type containing 12A ZC3H12A (5 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (727 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (665 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (332 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (308 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (186 Overlapping PMIDs. View on Twease.org )

+ IPI00032513 - Keratin type I cuticular Ha1 Hair keratin type I Ha1 Keratin-31 . KRT31 (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (324 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (213 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (116 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (115 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (55 Overlapping PMIDs. View on Twease.org )

+ IPI00064241 - zinc finger protein subfamily 1A 4 IKZF4 (5 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1926 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (1563 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (819 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (587 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (319 Overlapping PMIDs. View on Twease.org )

+ IPI00102660 - Twinkle protein mitochondrial precursor EC 3.6.1.- T7 gp4-like protein with intramitochondrial nucleoid localization T7-like mitochondrial DNA helicase Progressive external ophthalmoplegia 1 protein . PEO1 (5 diseases found)

557000 - PEARSON MARROW-PANCREAS SYNDROME (421 Overlapping PMIDs. View on Twease.org )
530000 - KEARNS-SAYRE SYNDROME; KSS (417 Overlapping PMIDs. View on Twease.org )
603041 - MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE (382 Overlapping PMIDs. View on Twease.org )
560000 - RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA DUE TO DUPLICATION OF MITOCHONDRIAL DNA (322 Overlapping PMIDs. View on Twease.org )
165000 - OPHTHALMOPLEGIA, FAMILIAL STATIC (54 Overlapping PMIDs. View on Twease.org )

+ IPI00216711 - Keratin-associated protein 11-1 High sulfur keratin-associated protein 11.1 . KRTAP11-1 (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (41 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (26 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (16 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (14 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (8 Overlapping PMIDs. View on Twease.org )

+ IPI00218653 - Dystrobrevin alpha Dystrobrevin-alpha Dystrophin-related protein 3 . DTNA (5 diseases found)

603323 - MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY (700 Overlapping PMIDs. View on Twease.org )
310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD (509 Overlapping PMIDs. View on Twease.org )
300376 - MUSCULAR DYSTROPHY, BECKER TYPE; BMD (486 Overlapping PMIDs. View on Twease.org )
253700 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C (476 Overlapping PMIDs. View on Twease.org )
608765 - SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 (166 Overlapping PMIDs. View on Twease.org )

+ IPI00291540 - Keratin type I cuticular Ha2 Hair keratin type I Ha2 Keratin-32 . KRT32 (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (315 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (203 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (109 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (106 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (52 Overlapping PMIDs. View on Twease.org )

+ IPI00294649 - Keratin type I cuticular Ha5 Hair keratin type I Ha5 . KRT35 (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (393 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (263 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (158 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (140 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (64 Overlapping PMIDs. View on Twease.org )

+ IPI00297632 - Keratin type I cuticular Ha3-I Hair keratin type I Ha3-I . KRT33A (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (394 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (263 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (158 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (140 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (64 Overlapping PMIDs. View on Twease.org )

+ IPI00299040 - Polycystin-2 Polycystic kidney disease 2 protein homolog Autosomal dominant polycystic kidney disease type II protein Polycystwin R48321 . PKD2 (5 diseases found)

609886 - GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA (2557 Overlapping PMIDs. View on Twease.org )
600666 - POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3 (2476 Overlapping PMIDs. View on Twease.org )
173900 - POLYCYSTIC KIDNEYS (1926 Overlapping PMIDs. View on Twease.org )
263200 - POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD (1782 Overlapping PMIDs. View on Twease.org )
604771 - POLYCYSTIC BONE DISEASE (1139 Overlapping PMIDs. View on Twease.org )

+ IPI00336094 - 3-hydroxyacyl-CoA dehydrogenase type-2 EC 1.1.1.35 3-hydroxyacyl- CoA dehydrogenase type II Type II HADH 3-hydroxy-2-methylbutyryl- CoA dehydrogenase EC 1.1.1.178 Endoplasmic reticulum-associated amyloid beta-peptide-binding protein Short-cha HSD17B10 (5 diseases found)

609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (265 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (237 Overlapping PMIDs. View on Twease.org )
611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (188 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (134 Overlapping PMIDs. View on Twease.org )
231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (131 Overlapping PMIDs. View on Twease.org )

+ IPI00419574 - Keratin type I cuticular Ha3-I Hair keratin type I Ha3-I . KRT33A (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (394 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (263 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (158 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (140 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (64 Overlapping PMIDs. View on Twease.org )

+ IPI00654621 - Twinkle protein mitochondrial precursor EC 3.6.1.- T7 gp4-like protein with intramitochondrial nucleoid localization T7-like mitochondrial DNA helicase Progressive external ophthalmoplegia 1 protein . PEO1 (5 diseases found)

557000 - PEARSON MARROW-PANCREAS SYNDROME (421 Overlapping PMIDs. View on Twease.org )
530000 - KEARNS-SAYRE SYNDROME; KSS (417 Overlapping PMIDs. View on Twease.org )
603041 - MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE (382 Overlapping PMIDs. View on Twease.org )
560000 - RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA DUE TO DUPLICATION OF MITOCHONDRIAL DNA (322 Overlapping PMIDs. View on Twease.org )
165000 - OPHTHALMOPLEGIA, FAMILIAL STATIC (54 Overlapping PMIDs. View on Twease.org )

+ IPI00790172 - Keratin type I cuticular Ha5 Hair keratin type I Ha5 . KRT35 (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (393 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (263 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (158 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (140 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (64 Overlapping PMIDs. View on Twease.org )

+ IPI00796364 - Keratin type I cuticular Ha1 Hair keratin type I Ha1 Keratin-31 . KRT31 (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (324 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (213 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (116 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (115 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (55 Overlapping PMIDs. View on Twease.org )

+ IPI00797730 - zinc finger protein subfamily 1A 4 IKZF4 (5 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1926 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (1563 Overlapping PMIDs. View on Twease.org )
610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (819 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (587 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (319 Overlapping PMIDs. View on Twease.org )

+ IPI00798228 - Keratin type I cuticular Ha3-I Hair keratin type I Ha3-I . KRT33A (5 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (394 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (263 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (158 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (140 Overlapping PMIDs. View on Twease.org )
125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (64 Overlapping PMIDs. View on Twease.org )

+ IPI00000897 - Probable helicase with zinc finger domain EC 3.6.1.- . HELZ (4 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1593 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (1538 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (524 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (272 Overlapping PMIDs. View on Twease.org )

+ IPI00005264 - Plakophilin-2. PKP2 (4 diseases found)

607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (60 Overlapping PMIDs. View on Twease.org )
607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (48 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (29 Overlapping PMIDs. View on Twease.org )
607654 - KERATOSIS PALMOPLANTARIS STRIATA III (28 Overlapping PMIDs. View on Twease.org )

+ IPI00012448 - Battenin Protein CLN3 Batten disease protein . CLN3 (4 diseases found)

204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 (331 Overlapping PMIDs. View on Twease.org )
256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 (319 Overlapping PMIDs. View on Twease.org )
204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 (301 Overlapping PMIDs. View on Twease.org )
609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (115 Overlapping PMIDs. View on Twease.org )

+ IPI00151462 - keratin hair basic 5 KRTHB5 mRNA (4 diseases found)

609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (101 Overlapping PMIDs. View on Twease.org )
607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (57 Overlapping PMIDs. View on Twease.org )
607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (45 Overlapping PMIDs. View on Twease.org )
607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (30 Overlapping PMIDs. View on Twease.org )

+ IPI00183414 - von Willebrand factor A domain containing 3B VWA3B (4 diseases found)

134500 - FACTOR VIII DEFICIENCY (2261 Overlapping PMIDs. View on Twease.org )
274150 - THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP (2174 Overlapping PMIDs. View on Twease.org )
187800 - GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT (1739 Overlapping PMIDs. View on Twease.org )
306800 - HEMOPHILIA A WITH VASCULAR ABNORMALITY (1525 Overlapping PMIDs. View on Twease.org )

+ IPI00217272 - acetoacetyl-CoA synthetase AACS (4 diseases found)

203750 - ALPHA-METHYLACETOACETIC ACIDURIA (7 Overlapping PMIDs. View on Twease.org )
245050 - SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY (7 Overlapping PMIDs. View on Twease.org )
605911 - 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OF (7 Overlapping PMIDs. View on Twease.org )
253270 - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (6 Overlapping PMIDs. View on Twease.org )

+ IPI00217835 - Battenin Protein CLN3 Batten disease protein . CLN3 (4 diseases found)

204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 (331 Overlapping PMIDs. View on Twease.org )
256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 (319 Overlapping PMIDs. View on Twease.org )
204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 (301 Overlapping PMIDs. View on Twease.org )
609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (115 Overlapping PMIDs. View on Twease.org )

+ IPI00217837 - Battenin Protein CLN3 Batten disease protein . CLN3 (4 diseases found)

204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 (331 Overlapping PMIDs. View on Twease.org )
256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 (319 Overlapping PMIDs. View on Twease.org )
204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 (301 Overlapping PMIDs. View on Twease.org )
609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (115 Overlapping PMIDs. View on Twease.org )

+ IPI00219688 - Plakophilin-2. PKP2 (4 diseases found)

607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (60 Overlapping PMIDs. View on Twease.org )
607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (48 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (29 Overlapping PMIDs. View on Twease.org )
607654 - KERATOSIS PALMOPLANTARIS STRIATA III (28 Overlapping PMIDs. View on Twease.org )

+ IPI00289986 - Serine-protein kinase ATM EC 2.7.11.1 Ataxia telangiectasia mutated A-T mutated . (4 diseases found)

604391 - ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD (1258 Overlapping PMIDs. View on Twease.org )
208900 - ATAXIA-TELANGIECTASIA; AT (1033 Overlapping PMIDs. View on Twease.org )
251260 - NIJMEGEN BREAKAGE SYNDROME (531 Overlapping PMIDs. View on Twease.org )
208870 - ATAXIA-MICROCEPHALY-CATARACT SYNDROME (238 Overlapping PMIDs. View on Twease.org )

+ IPI00303112 - CXXC-type zinc finger protein 6 Leukemia-associated protein with a CXXC domain . CXXC6 (4 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2303 Overlapping PMIDs. View on Twease.org )
300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (2294 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (690 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (328 Overlapping PMIDs. View on Twease.org )

+ IPI00377161 - 3-hydroxyisobutyryl-CoA hydrolase mitochondrial precursor EC 3.1.2.4 3-hydroxyisobutyryl-coenzyme A hydrolase HIBYL-CoA-H HIB-CoA hydrolase . HIBCH (4 diseases found)

602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (431 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (407 Overlapping PMIDs. View on Twease.org )
250620 - BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF (195 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (191 Overlapping PMIDs. View on Twease.org )

+ IPI00401809 - dynein axonemal heavy chain 10 DNAH10 (4 diseases found)

608644 - CILIARY DYSKINESIA, PRIMARY, 3 (485 Overlapping PMIDs. View on Twease.org )
244400 - KARTAGENER SYNDROME (271 Overlapping PMIDs. View on Twease.org )
242670 - IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES (268 Overlapping PMIDs. View on Twease.org )
610852 - CILIARY DYSKINESIA, PRIMARY, 6 (170 Overlapping PMIDs. View on Twease.org )

+ IPI00419802 - 3-hydroxyisobutyryl-CoA hydrolase mitochondrial precursor EC 3.1.2.4 3-hydroxyisobutyryl-coenzyme A hydrolase HIBYL-CoA-H HIB-CoA hydrolase . HIBCH (4 diseases found)

602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (431 Overlapping PMIDs. View on Twease.org )
609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (407 Overlapping PMIDs. View on Twease.org )
250620 - BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF (195 Overlapping PMIDs. View on Twease.org )
602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (191 Overlapping PMIDs. View on Twease.org )

+ IPI00639963 - Battenin Protein CLN3 Batten disease protein . CLN3 (4 diseases found)

204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 (331 Overlapping PMIDs. View on Twease.org )
256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 (319 Overlapping PMIDs. View on Twease.org )
204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 (301 Overlapping PMIDs. View on Twease.org )
609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (115 Overlapping PMIDs. View on Twease.org )

+ IPI00640605 - Battenin Protein CLN3 Batten disease protein . CLN3 (4 diseases found)

204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 (331 Overlapping PMIDs. View on Twease.org )
256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 (319 Overlapping PMIDs. View on Twease.org )
204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 (301 Overlapping PMIDs. View on Twease.org )
609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (115 Overlapping PMIDs. View on Twease.org )

+ IPI00644378 - Battenin Protein CLN3 Batten disease protein . CLN3 (4 diseases found)

204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 (331 Overlapping PMIDs. View on Twease.org )
256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 (319 Overlapping PMIDs. View on Twease.org )
204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 (301 Overlapping PMIDs. View on Twease.org )
609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (115 Overlapping PMIDs. View on Twease.org )

+ IPI00789348 - acetoacetyl-CoA synthetase AACS (4 diseases found)

203750 - ALPHA-METHYLACETOACETIC ACIDURIA (7 Overlapping PMIDs. View on Twease.org )
245050 - SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY (7 Overlapping PMIDs. View on Twease.org )
605911 - 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OF (7 Overlapping PMIDs. View on Twease.org )
253270 - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (6 Overlapping PMIDs. View on Twease.org )

+ IPI00001091 - AFG3-like protein 2 EC 3.4.24.- Paraplegin-like protein . AFG3L2 (3 diseases found)

607259 - SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 (10 Overlapping PMIDs. View on Twease.org )
610357 - SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 (8 Overlapping PMIDs. View on Twease.org )
270700 - SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 (7 Overlapping PMIDs. View on Twease.org )

+ IPI00005020 - Zinc finger protein 64 isoforms 3 and 4 Zinc finger protein 338 . ZFP64 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (341 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (86 Overlapping PMIDs. View on Twease.org )
608890 - WAARDENBURG SYNDROME, TYPE IID (61 Overlapping PMIDs. View on Twease.org )

+ IPI00010187 - Elongation of very long chain fatty acids protein 1. ELOVL1 (3 diseases found)

201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (6397 Overlapping PMIDs. View on Twease.org )
603376 - LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF (6280 Overlapping PMIDs. View on Twease.org )
264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (6228 Overlapping PMIDs. View on Twease.org )

+ IPI00015135 - Exostosin-like 3 EC 2.4.1.223 Glucuronyl-galactosyl-proteoglycan 4- alpha-N-acetylglucosaminyltransferase Putative tumor suppressor protein EXTL3 Multiple exostosis-like protein 3 Hereditary multiple exostoses gene isolog EXT-related protein 1 EXTL3 (3 diseases found)

133701 - EXOSTOSES, MULTIPLE, TYPE II (88 Overlapping PMIDs. View on Twease.org )
133700 - EXOSTOSES, MULTIPLE, TYPE I (81 Overlapping PMIDs. View on Twease.org )
215300 - CHONDROSARCOMA (65 Overlapping PMIDs. View on Twease.org )

+ IPI00019520 - Zinc finger protein 192 LD5-1 Zinc finger protein with KRAB and SCAN domains 8 . ZNF192 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (893 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (276 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (162 Overlapping PMIDs. View on Twease.org )

+ IPI00024087 - Pyruvate dehydrogenase E1 component alpha subunit testis-specific form mitochondrial precursor EC 1.2.4.1 PDHE1-A type II . PDHA2 (3 diseases found)

312170 - PYRUVATE DECARBOXYLASE DEFICIENCY (466 Overlapping PMIDs. View on Twease.org )
248600 - MAPLE SYRUP URINE DISEASE (418 Overlapping PMIDs. View on Twease.org )
245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (385 Overlapping PMIDs. View on Twease.org )

+ IPI00025846 - Desmocollin-2 precursor Desmosomal glycoprotein II and III Desmocollin-3 . DSC2 (3 diseases found)

607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (130 Overlapping PMIDs. View on Twease.org )
607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (89 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (27 Overlapping PMIDs. View on Twease.org )

+ IPI00026308 - N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase EC 2.8.2.33 GalNAc4S-6ST B-cell RAG-associated gene protein hBRAG . (3 diseases found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (100 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (39 Overlapping PMIDs. View on Twease.org )
253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (10 Overlapping PMIDs. View on Twease.org )

+ IPI00026627 - Protein XRP2. RP2 (3 diseases found)

300155 - RETINITIS PIGMENTOSA 24; RP24 (58 Overlapping PMIDs. View on Twease.org )
300578 - CHROMOSOME Xp11.3 DELETION SYNDROME (56 Overlapping PMIDs. View on Twease.org )
312612 - RETINITIS PIGMENTOSA 6; RP6 (54 Overlapping PMIDs. View on Twease.org )

+ IPI00029605 - N-acetylgalactosamine-6-sulfatase precursor EC 3.1.6.4 N- acetylgalactosamine-6-sulfate sulfatase Galactose-6-sulfate sulfatase GalNAc6S sulfatase Chondroitinsulfatase Chondroitinase . GALNS (3 diseases found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (187 Overlapping PMIDs. View on Twease.org )
608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (173 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (164 Overlapping PMIDs. View on Twease.org )

+ IPI00152420 - Zinc finger protein 398 Zinc finger DNA-binding protein p52 p71 . ZNF398 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1459 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (521 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (285 Overlapping PMIDs. View on Twease.org )

+ IPI00152462 - dynein axonemal heavy chain 3 DNAH3 (3 diseases found)

244400 - KARTAGENER SYNDROME (307 Overlapping PMIDs. View on Twease.org )
242670 - IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES (305 Overlapping PMIDs. View on Twease.org )
610852 - CILIARY DYSKINESIA, PRIMARY, 6 (200 Overlapping PMIDs. View on Twease.org )

+ IPI00170773 - Zinc finger protein 398 Zinc finger DNA-binding protein p52 p71 . ZNF398 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1459 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (521 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (285 Overlapping PMIDs. View on Twease.org )

+ IPI00177819 - Ring finger and CCCH-type zinc finger domain-containing protein 2 Membrane-associated nucleic acid-binding protein RING finger protein 164 . RC3H2 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1337 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (453 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (228 Overlapping PMIDs. View on Twease.org )

+ IPI00183321 - N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase EC 2.8.2.33 GalNAc4S-6ST B-cell RAG-associated gene protein hBRAG . (3 diseases found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (100 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (39 Overlapping PMIDs. View on Twease.org )
253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (10 Overlapping PMIDs. View on Twease.org )

+ IPI00184094 - UDP-GlcNAc betaGal beta-1 3-N-acetylglucosaminyltransferase 8 B3GNT8 (3 diseases found)

212066 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A (910 Overlapping PMIDs. View on Twease.org )
252605 - MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C (868 Overlapping PMIDs. View on Twease.org )
608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (388 Overlapping PMIDs. View on Twease.org )

+ IPI00220146 - Desmocollin-2 precursor Desmosomal glycoprotein II and III Desmocollin-3 . DSC2 (3 diseases found)

607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (130 Overlapping PMIDs. View on Twease.org )
607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (89 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (27 Overlapping PMIDs. View on Twease.org )

+ IPI00247123 - similar to zinc finger and SCAN domain containing 5 LOC342933 mRNA (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2333 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (682 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (333 Overlapping PMIDs. View on Twease.org )

+ IPI00294603 - MYM-type zinc finger protein 2 Zinc finger protein 198 Fused in myeloproliferative disorders protein Rearranged in atypical myeloproliferative disorder protein . ZMYM2 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2076 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (625 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (329 Overlapping PMIDs. View on Twease.org )

+ IPI00306301 - Pyruvate dehydrogenase E1 component alpha subunit somatic form mitochondrial precursor EC 1.2.4.1 PDHE1-A type I . PDHA1 (3 diseases found)

312170 - PYRUVATE DECARBOXYLASE DEFICIENCY (539 Overlapping PMIDs. View on Twease.org )
248600 - MAPLE SYRUP URINE DISEASE (483 Overlapping PMIDs. View on Twease.org )
245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (433 Overlapping PMIDs. View on Twease.org )

+ IPI00306518 - Fanconi anemia group I protein Protein FANCI . FANCI (3 diseases found)

600546 - INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (892 Overlapping PMIDs. View on Twease.org )
227650 - FANCONI ANEMIA; FA (796 Overlapping PMIDs. View on Twease.org )
227850 - FANCONI-LIKE SYNDROME (525 Overlapping PMIDs. View on Twease.org )

+ IPI00306576 - Arylsulfatase B precursor EC 3.1.6.12 ASB N-acetylgalactosamine- 4-sulfatase G4S . ARSB (3 diseases found)

250100 - METACHROMATIC LEUKODYSTROPHY (109 Overlapping PMIDs. View on Twease.org )
253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (101 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (97 Overlapping PMIDs. View on Twease.org )

+ IPI00329685 - Arylsulfatase A precursor EC 3.1.6.8 ASA Cerebroside-sulfatase . ARSA (3 diseases found)

250100 - METACHROMATIC LEUKODYSTROPHY (240 Overlapping PMIDs. View on Twease.org )
253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (74 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (44 Overlapping PMIDs. View on Twease.org )

+ IPI00337414 - prolyl 4-hydroxylase alpha III subunit precursor P4HA3 (3 diseases found)

225400 - EHLERS-DANLOS SYNDROME, TYPE VI (194 Overlapping PMIDs. View on Twease.org )
609820 - ERYTHROCYTOSIS, FAMILIAL, 3 (97 Overlapping PMIDs. View on Twease.org )
609220 - BRUCK SYNDROME 2 (37 Overlapping PMIDs. View on Twease.org )

+ IPI00385511 - Trinucleotide repeat-containing 6B protein. TNRC6B (3 diseases found)

125370 - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA (986 Overlapping PMIDs. View on Twease.org )
183086 - SPINOCEREBELLAR ATAXIA 6; SCA6 (466 Overlapping PMIDs. View on Twease.org )
164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 (438 Overlapping PMIDs. View on Twease.org )

+ IPI00414782 - Zinc finger protein 64 isoforms 3 and 4 Zinc finger protein 338 . ZFP64 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (341 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (86 Overlapping PMIDs. View on Twease.org )
608890 - WAARDENBURG SYNDROME, TYPE IID (61 Overlapping PMIDs. View on Twease.org )

+ IPI00418163 - complement component 4B preproprotein C4B (3 diseases found)

120790 - COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF (90 Overlapping PMIDs. View on Twease.org )
152700 - SYSTEMIC LUPUS ERYTHEMATOSUS; SLE (87 Overlapping PMIDs. View on Twease.org )
106100 - ANGIOEDEMA, HEREDITARY; HAE (68 Overlapping PMIDs. View on Twease.org )

+ IPI00465146 - Src homology 3 domain-containing guanine nucleotide exchange factor (3 diseases found)

611104 - FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4 (1167 Overlapping PMIDs. View on Twease.org )
609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (600 Overlapping PMIDs. View on Twease.org )
300607 - HYPEREKPLEXIA AND EPILEPSY (267 Overlapping PMIDs. View on Twease.org )

+ IPI00549761 - Chitobiosyldiphosphodolichol beta-mannosyltransferase EC 2.4.1.142 GDP-mannose-dolichol diphosphochitobiose mannosyltransferase GDP- Man GlcNAc2-PP-dolichol mannosyltransferase Beta-1 4- mannosyltransferase Mannosyltransferase-1 MT-1 Hmat-1 ALG1 (3 diseases found)

607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (668 Overlapping PMIDs. View on Twease.org )
609180 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F (476 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (466 Overlapping PMIDs. View on Twease.org )

+ IPI00554660 - Peroxisomal sarcosine oxidase EC 1.5.3.1 PSO L-pipecolate oxidase EC 1.5.3.7 L-pipecolic acid oxidase . PIPOX (3 diseases found)

261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (174 Overlapping PMIDs. View on Twease.org )
231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (152 Overlapping PMIDs. View on Twease.org )
600964 - REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA; RDPA (68 Overlapping PMIDs. View on Twease.org )

+ IPI00607579 - Hermansky-Pudlak syndrome 1 protein. HPS1 (3 diseases found)

608233 - HERMANSKY-PUDLAK SYNDROME 2; HPS2 (365 Overlapping PMIDs. View on Twease.org )
203300 - HERMANSKY-PUDLAK SYNDROME; HPS (292 Overlapping PMIDs. View on Twease.org )
203280 - ALBINISM, MINIMAL PIGMENT TYPE (179 Overlapping PMIDs. View on Twease.org )

+ IPI00640771 - MYM-type zinc finger protein 2 Zinc finger protein 198 Fused in myeloproliferative disorders protein Rearranged in atypical myeloproliferative disorder protein . ZMYM2 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2076 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (625 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (329 Overlapping PMIDs. View on Twease.org )

+ IPI00642820 - Pyruvate dehydrogenase E1 component alpha subunit somatic form mitochondrial precursor EC 1.2.4.1 PDHE1-A type I . PDHA1 (3 diseases found)

312170 - PYRUVATE DECARBOXYLASE DEFICIENCY (539 Overlapping PMIDs. View on Twease.org )
248600 - MAPLE SYRUP URINE DISEASE (483 Overlapping PMIDs. View on Twease.org )
245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (433 Overlapping PMIDs. View on Twease.org )

+ IPI00643575 - Pyruvate dehydrogenase E1 component alpha subunit somatic form mitochondrial precursor EC 1.2.4.1 PDHE1-A type I . PDHA1 (3 diseases found)

312170 - PYRUVATE DECARBOXYLASE DEFICIENCY (539 Overlapping PMIDs. View on Twease.org )
248600 - MAPLE SYRUP URINE DISEASE (483 Overlapping PMIDs. View on Twease.org )
245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (433 Overlapping PMIDs. View on Twease.org )

+ IPI00643666 - Ring finger and CCCH-type zinc finger domain-containing protein 2 Membrane-associated nucleic acid-binding protein RING finger protein 164 . RC3H2 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1337 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (453 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (228 Overlapping PMIDs. View on Twease.org )

+ IPI00644402 - Chitobiosyldiphosphodolichol beta-mannosyltransferase EC 2.4.1.142 GDP-mannose-dolichol diphosphochitobiose mannosyltransferase GDP- Man GlcNAc2-PP-dolichol mannosyltransferase Beta-1 4- mannosyltransferase Mannosyltransferase-1 MT-1 Hmat-1 ALG1 (3 diseases found)

607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (668 Overlapping PMIDs. View on Twease.org )
609180 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F (476 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (466 Overlapping PMIDs. View on Twease.org )

+ IPI00645620 - dynein axonemal heavy chain 3 DNAH3 (3 diseases found)

244400 - KARTAGENER SYNDROME (307 Overlapping PMIDs. View on Twease.org )
242670 - IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES (305 Overlapping PMIDs. View on Twease.org )
610852 - CILIARY DYSKINESIA, PRIMARY, 6 (200 Overlapping PMIDs. View on Twease.org )

+ IPI00645888 - N-acetylgalactosamine-6-sulfatase precursor EC 3.1.6.4 N- acetylgalactosamine-6-sulfate sulfatase Galactose-6-sulfate sulfatase GalNAc6S sulfatase Chondroitinsulfatase Chondroitinase . GALNS (3 diseases found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (187 Overlapping PMIDs. View on Twease.org )
608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (173 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (164 Overlapping PMIDs. View on Twease.org )

+ IPI00646536 - Ring finger and CCCH-type zinc finger domain-containing protein 2 Membrane-associated nucleic acid-binding protein RING finger protein 164 . RC3H2 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1337 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (453 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (228 Overlapping PMIDs. View on Twease.org )

+ IPI00646824 - Zinc finger protein 64 isoforms 3 and 4 Zinc finger protein 338 . ZFP64 (3 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (341 Overlapping PMIDs. View on Twease.org )
174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (86 Overlapping PMIDs. View on Twease.org )
608890 - WAARDENBURG SYNDROME, TYPE IID (61 Overlapping PMIDs. View on Twease.org )

+ IPI00744184 - Arylsulfatase A precursor EC 3.1.6.8 ASA Cerebroside-sulfatase . ARSA (3 diseases found)

250100 - METACHROMATIC LEUKODYSTROPHY (240 Overlapping PMIDs. View on Twease.org )
253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (74 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (44 Overlapping PMIDs. View on Twease.org )

+ IPI00789499 - ADP-ribosylation factor-like protein 6 Bardet-Biedl syndrome 3 protein . ARL6 (3 diseases found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (571 Overlapping PMIDs. View on Twease.org )
210350 - BIEMOND SYNDROME II (142 Overlapping PMIDs. View on Twease.org )
601794 - COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME (142 Overlapping PMIDs. View on Twease.org )

+ IPI00816065 - Pyruvate dehydrogenase E1 component alpha subunit somatic form mitochondrial precursor EC 1.2.4.1 PDHE1-A type I . PDHA1 (3 diseases found)

312170 - PYRUVATE DECARBOXYLASE DEFICIENCY (539 Overlapping PMIDs. View on Twease.org )
248600 - MAPLE SYRUP URINE DISEASE (483 Overlapping PMIDs. View on Twease.org )
245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (433 Overlapping PMIDs. View on Twease.org )

+ IPI00852823 - Fanconi anemia group I protein Protein FANCI . FANCI (3 diseases found)

600546 - INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (892 Overlapping PMIDs. View on Twease.org )
227650 - FANCONI ANEMIA; FA (796 Overlapping PMIDs. View on Twease.org )
227850 - FANCONI-LIKE SYNDROME (525 Overlapping PMIDs. View on Twease.org )

+ IPI00853468 - Arylsulfatase A precursor EC 3.1.6.8 ASA Cerebroside-sulfatase . ARSA (3 diseases found)

250100 - METACHROMATIC LEUKODYSTROPHY (240 Overlapping PMIDs. View on Twease.org )
253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (74 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (44 Overlapping PMIDs. View on Twease.org )

+ IPI00003482 - 2 4-dienoyl-CoA reductase mitochondrial precursor EC 1.3.1.34 2 4- dienoyl-CoA reductase 4-enoyl-CoA reductase . DECR1 (2 diseases found)

609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (650 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (407 Overlapping PMIDs. View on Twease.org )

+ IPI00003925 - Pyruvate dehydrogenase E1 component subunit beta mitochondrial precursor EC 1.2.4.1 PDHE1-B . PDHB (2 diseases found)

248600 - MAPLE SYRUP URINE DISEASE (624 Overlapping PMIDs. View on Twease.org )
245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (564 Overlapping PMIDs. View on Twease.org )

+ IPI00004859 - Bloom syndrome protein EC 3.6.1.- RecQ protein-like 3 DNA helicase RecQ-like type 2 . BLM (2 diseases found)

277700 - WERNER SYNDROME; WRN (373 Overlapping PMIDs. View on Twease.org )
210900 - BLOOM SYNDROME; BLM (243 Overlapping PMIDs. View on Twease.org )

+ IPI00008556 - Coagulation factor XI precursor EC 3.4.21.27 Plasma thromboplastin antecedent PTA FXI . F11 (2 diseases found)

134520 - FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF (644 Overlapping PMIDs. View on Twease.org )
134540 - FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF (636 Overlapping PMIDs. View on Twease.org )

+ IPI00009997 - N-acetyllactosaminide beta-1 3-N-acetylglucosaminyltransferase EC 2.4.1.149 Poly-N-acetyllactosamine extension enzyme I-beta- 1 3-N-acetylglucosaminyltransferase iGnT UDP-GlcNAc betaGal beta- 1 3-N-acetylglucosaminyltransferase 1 . B3GNT1 (2 diseases found)

212066 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A (1022 Overlapping PMIDs. View on Twease.org )
608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (374 Overlapping PMIDs. View on Twease.org )

+ IPI00010680 - Fibroblast growth factor receptor 2 precursor EC 2.7.10.1 FGFR-2 Keratinocyte growth factor receptor 2 CD332 antigen . FGFR2 (2 diseases found)

605321 - FRONTOOCULAR SYNDROME (177 Overlapping PMIDs. View on Twease.org )
603116 - CDAGS SYNDROME (80 Overlapping PMIDs. View on Twease.org )

+ IPI00012102 - N-acetylglucosamine-6-sulfatase precursor EC 3.1.6.14 G6S Glucosamine-6-sulfatase . GNS (2 diseases found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (221 Overlapping PMIDs. View on Twease.org )
253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (93 Overlapping PMIDs. View on Twease.org )

+ IPI00012851 - Probable phospholipid-transporting ATPase IC EC 3.6.3.1 Familial intrahepatic cholestasis type 1 ATPase class I type 8B member 1 . ATP8B1 (2 diseases found)

214980 - CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE (208 Overlapping PMIDs. View on Twease.org )
214900 - CHOLESTASIS-LYMPHEDEMA SYNDROME (98 Overlapping PMIDs. View on Twease.org )

+ IPI00018955 - Zinc finger protein 174 AW-1 Zinc finger and SCAN domain-containing protein 8 . ZNF174 (2 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (838 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (264 Overlapping PMIDs. View on Twease.org )

+ IPI00020058 - Copper-transporting ATPase 2 EC 3.6.3.4 Copper pump 2 Wilson disease-associated protein . ATP7B (2 diseases found)

277900 - WILSON DISEASE (400 Overlapping PMIDs. View on Twease.org )
309400 - MENKES DISEASE (260 Overlapping PMIDs. View on Twease.org )

+ IPI00020407 - Alpha-1 6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A EC 2.4.1.155 Mannoside acetylglucosaminyltransferase 5 Alpha- mannoside beta-1 6-N-acetylglucosaminyltransferase N- acetylglucosaminyl-transferase V GNT-V GlcNAc-T V . MGAT5 (2 diseases found)

212066 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A (492 Overlapping PMIDs. View on Twease.org )
608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (168 Overlapping PMIDs. View on Twease.org )

+ IPI00021304 - Keratin type II cytoskeletal 2 epidermal Cytokeratin-2e K2e CK 2e keratin-2 . KRT2 (2 diseases found)

607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (246 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (143 Overlapping PMIDs. View on Twease.org )

+ IPI00021338 - Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial precursor EC 2.3.1.12 Pyruvate dehydrogenase complex E2 subunit PDCE2 E2 Dihydrolipoamide S- acetyltransferase component of pyruvate dehydrog DLAT (2 diseases found)

245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (826 Overlapping PMIDs. View on Twease.org )
248600 - MAPLE SYRUP URINE DISEASE (779 Overlapping PMIDs. View on Twease.org )

+ IPI00021405 - Lamin-A C 70 kDa lamin Renal carcinoma antigen NY-REN-32 . LMNA (2 diseases found)

607920 - CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY (189 Overlapping PMIDs. View on Twease.org )
605588 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (91 Overlapping PMIDs. View on Twease.org )

+ IPI00032034 - Beta-1 3-galactosyltransferase 5 EC 2.4.1.- Beta-1 3-GalTase 5 Beta3Gal-T5 b3Gal-T5 UDP-galactose beta-N-acetylglucosamine beta- 1 3-galactosyltransferase 5 UDP-Gal beta-GlcNAc beta-1 3- galactosyltransferase 5 Beta-3-Gx-T5 . B3GALT5 (2 diseases found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (571 Overlapping PMIDs. View on Twease.org )
607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D (375 Overlapping PMIDs. View on Twease.org )

+ IPI00071509 - Plakophilin-1 Band-6 protein B6P . PKP1 (2 diseases found)

607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (35 Overlapping PMIDs. View on Twease.org )
609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (16 Overlapping PMIDs. View on Twease.org )

+ IPI00099981 - Polycystin-1 precursor Autosomal dominant polycystic kidney disease protein 1 . PKD1 (2 diseases found)

263200 - POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD (2246 Overlapping PMIDs. View on Twease.org )
147530 - INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY (821 Overlapping PMIDs. View on Twease.org )

+ IPI00105068 - Mannose-P-dolichol utilization defect 1 protein Suppressor of Lec15 and Lec35 glycosylation mutation homolog SL15 . MPDU1 (2 diseases found)

607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (620 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (512 Overlapping PMIDs. View on Twease.org )

+ IPI00152358 - Carnitine O-palmitoyltransferase I brain isoform EC 2.3.1.21 Carnitine palmitoyltransferase 1C CPT IC . CPT1C (2 diseases found)

255110 - CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET (678 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (397 Overlapping PMIDs. View on Twease.org )

+ IPI00154858 - platelet endothelial aggregation receptor 1 (2 diseases found)

605735 - PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY (286 Overlapping PMIDs. View on Twease.org )
173400 - PLATELET AGGREGATION, SPONTANEOUS (250 Overlapping PMIDs. View on Twease.org )

+ IPI00160622 - Centrosome-associated protein CEP250 Centrosomal protein 2 Centrosomal Nek2-associated protein 1 C-Nap1 . (2 diseases found)

610188 - JOUBERT SYNDROME 5; JBTS5 (503 Overlapping PMIDs. View on Twease.org )
610189 - SENIOR-LOKEN SYNDROME 6; SLSN6 (317 Overlapping PMIDs. View on Twease.org )

+ IPI00168137 - Rho guanine nucleotide exchange factor GEF 10-like isoform 2 ARHGEF10L (2 diseases found)

611104 - FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4 (1442 Overlapping PMIDs. View on Twease.org )
609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1263 Overlapping PMIDs. View on Twease.org )

+ IPI00170531 - potassium voltage-gated channel shaker-related subfamily member 7 KCNA7 (2 diseases found)

607628 - EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING (1092 Overlapping PMIDs. View on Twease.org )
607682 - EPILEPSY, CHILDHOOD ABSENCE, 3 (1092 Overlapping PMIDs. View on Twease.org )

+ IPI00216296 - Copper-transporting ATPase 2 EC 3.6.3.4 Copper pump 2 Wilson disease-associated protein . ATP7B (2 diseases found)

277900 - WILSON DISEASE (400 Overlapping PMIDs. View on Twease.org )
309400 - MENKES DISEASE (260 Overlapping PMIDs. View on Twease.org )

+ IPI00216588 - Coagulation factor XI precursor EC 3.4.21.27 Plasma thromboplastin antecedent PTA FXI . F11 (2 diseases found)

134520 - FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF (644 Overlapping PMIDs. View on Twease.org )
134540 - FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF (636 Overlapping PMIDs. View on Twease.org )

+ IPI00216602 - Fibroblast growth factor receptor 2 precursor EC 2.7.10.1 FGFR-2 Keratinocyte growth factor receptor 2 CD332 antigen . FGFR2 (2 diseases found)

605321 - FRONTOOCULAR SYNDROME (177 Overlapping PMIDs. View on Twease.org )
603116 - CDAGS SYNDROME (80 Overlapping PMIDs. View on Twease.org )

+ IPI00216604 - Fibroblast growth factor receptor 2 precursor EC 2.7.10.1 FGFR-2 Keratinocyte growth factor receptor 2 CD332 antigen . FGFR2 (2 diseases found)

605321 - FRONTOOCULAR SYNDROME (177 Overlapping PMIDs. View on Twease.org )
603116 - CDAGS SYNDROME (80 Overlapping PMIDs. View on Twease.org )

+ IPI00220156 - Transforming growth factor beta-2 precursor TGF-beta-2 Glioblastoma-derived T-cell suppressor factor G-TSF BSC-1 cell growth inhibitor Polyergin Cetermin . TGFB2 (2 diseases found)

154370 - MAMMASTATIN (6672 Overlapping PMIDs. View on Twease.org )
601101 - OSLER-RENDU-WEBER SYNDROME 3; ORW3 (6269 Overlapping PMIDs. View on Twease.org )

+ IPI00220327 - Keratin type II cytoskeletal 1 Cytokeratin-1 CK-1 Keratin-1 K1 67 kDa cytokeratin Hair alpha protein . KRT1 (2 diseases found)

607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (80 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (66 Overlapping PMIDs. View on Twease.org )

+ IPI00235354 - Transforming growth factor beta-2 precursor TGF-beta-2 Glioblastoma-derived T-cell suppressor factor G-TSF BSC-1 cell growth inhibitor Polyergin Cetermin . TGFB2 (2 diseases found)

154370 - MAMMASTATIN (6672 Overlapping PMIDs. View on Twease.org )
601101 - OSLER-RENDU-WEBER SYNDROME 3; ORW3 (6269 Overlapping PMIDs. View on Twease.org )

+ IPI00290570 - Cdc42 effector protein 5 Binder of Rho GTPases 3 . CDC42EP5 (2 diseases found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1903 Overlapping PMIDs. View on Twease.org )
300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1808 Overlapping PMIDs. View on Twease.org )

+ IPI00292445 - CpG-binding protein PHD finger and CXXC domain-containing protein 1 CXXC-type zinc finger protein 1 . CXXC1 (2 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2341 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (732 Overlapping PMIDs. View on Twease.org )

+ IPI00297252 - Extracellular sulfatase Sulf-2 precursor EC 3.1.6.- HSulf-2 . SULF2 (2 diseases found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (31 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (16 Overlapping PMIDs. View on Twease.org )

+ IPI00297288 - Cdc42 GTPase-activating protein (2 diseases found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (643 Overlapping PMIDs. View on Twease.org )
300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (603 Overlapping PMIDs. View on Twease.org )

+ IPI00298235 - Protein O-mannosyl-transferase 1 EC 2.4.1.109 Dolichyl-phosphate- mannose--protein mannosyltransferase 1 . POMT1 (2 diseases found)

607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (311 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (209 Overlapping PMIDs. View on Twease.org )

+ IPI00303152 - collagen type XXII alpha 1 COL22A1 (2 diseases found)

225320 - EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM (189 Overlapping PMIDs. View on Twease.org )
233450 - GOODPASTURE SYNDROME (140 Overlapping PMIDs. View on Twease.org )

+ IPI00304865 - TGF-beta receptor type III precursor TGFR-3 Transforming growth factor beta receptor III Betaglycan . TGFBR3 (2 diseases found)

154370 - MAMMASTATIN (12606 Overlapping PMIDs. View on Twease.org )
601101 - OSLER-RENDU-WEBER SYNDROME 3; ORW3 (11485 Overlapping PMIDs. View on Twease.org )

+ IPI00398199 - GTF2I repeat domain containing 2B GTF2IRD2B (2 diseases found)

194050 - WILLIAMS-BEUREN SYNDROME; WBS (5 Overlapping PMIDs. View on Twease.org )
609757 - WILLIAMS-BEUREN REGION DUPLICATION SYNDROME (5 Overlapping PMIDs. View on Twease.org )

+ IPI00439446 - Mannosyl-oligosaccharide 1 2-alpha-mannosidase IA EC 3.2.1.113 Processing alpha-1 2-mannosidase IA Alpha-1 2-mannosidase IA Mannosidase alpha class 1A member 1 Man 9 -alpha-mannosidase Man9-mannosidase . MAN1A1 (2 diseases found)

609180 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F (267 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (255 Overlapping PMIDs. View on Twease.org )

+ IPI00442121 - Delta-aminolevulinic acid dehydratase EC 4.2.1.24 Porphobilinogen synthase ALADH . ALAD (2 diseases found)

176000 - PORPHYRIA, ACUTE INTERMITTENT (474 Overlapping PMIDs. View on Twease.org )
218340 - CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION (92 Overlapping PMIDs. View on Twease.org )

+ IPI00465059 - Mitochondrial Rho GTPase 2 EC 3.6.5.- MIRO-2 hMiro-2 Ras homolog gene family member T2 . RHOT2 (2 diseases found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (331 Overlapping PMIDs. View on Twease.org )
609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (293 Overlapping PMIDs. View on Twease.org )

+ IPI00478817 - Rho guanine nucleotide exchange factor GEF 10-like isoform 2 ARHGEF10L (2 diseases found)

611104 - FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4 (1442 Overlapping PMIDs. View on Twease.org )
609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1263 Overlapping PMIDs. View on Twease.org )

+ IPI00479631 - Bloom syndrome protein EC 3.6.1.- RecQ protein-like 3 DNA helicase RecQ-like type 2 . BLM (2 diseases found)

277700 - WERNER SYNDROME; WRN (373 Overlapping PMIDs. View on Twease.org )
210900 - BLOOM SYNDROME; BLM (243 Overlapping PMIDs. View on Twease.org )

+ IPI00514424 - Palmitoyl-protein thioesterase 1 precursor EC 3.1.2.22 PPT-1 Palmitoyl-protein hydrolase 1 . PPT1 (2 diseases found)

602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (99 Overlapping PMIDs. View on Twease.org )
609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (32 Overlapping PMIDs. View on Twease.org )

+ IPI00555879 - Extracellular sulfatase Sulf-2 precursor EC 3.1.6.- HSulf-2 . SULF2 (2 diseases found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (31 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (16 Overlapping PMIDs. View on Twease.org )

+ IPI00556573 - Carnitine O-palmitoyltransferase I brain isoform EC 2.3.1.21 Carnitine palmitoyltransferase 1C CPT IC . CPT1C (2 diseases found)

255110 - CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET (678 Overlapping PMIDs. View on Twease.org )
606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (397 Overlapping PMIDs. View on Twease.org )

+ IPI00604707 - Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial precursor EC 2.3.1.12 Pyruvate dehydrogenase complex E2 subunit PDCE2 E2 Dihydrolipoamide S- acetyltransferase component of pyruvate dehydrog DLAT (2 diseases found)

245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (826 Overlapping PMIDs. View on Twease.org )
248600 - MAPLE SYRUP URINE DISEASE (779 Overlapping PMIDs. View on Twease.org )

+ IPI00640766 - CpG-binding protein PHD finger and CXXC domain-containing protein 1 CXXC-type zinc finger protein 1 . CXXC1 (2 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2341 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (732 Overlapping PMIDs. View on Twease.org )

+ IPI00641026 - CpG-binding protein PHD finger and CXXC domain-containing protein 1 CXXC-type zinc finger protein 1 . CXXC1 (2 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2341 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (732 Overlapping PMIDs. View on Twease.org )

+ IPI00641628 - Protein O-mannosyl-transferase 1 EC 2.4.1.109 Dolichyl-phosphate- mannose--protein mannosyltransferase 1 . POMT1 (2 diseases found)

607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (311 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (209 Overlapping PMIDs. View on Twease.org )

+ IPI00642299 - Protein O-mannosyl-transferase 1 EC 2.4.1.109 Dolichyl-phosphate- mannose--protein mannosyltransferase 1 . POMT1 (2 diseases found)

607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (311 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (209 Overlapping PMIDs. View on Twease.org )

+ IPI00642401 - TGF-beta receptor type III precursor TGFR-3 Transforming growth factor beta receptor III Betaglycan . TGFBR3 (2 diseases found)

154370 - MAMMASTATIN (12606 Overlapping PMIDs. View on Twease.org )
601101 - OSLER-RENDU-WEBER SYNDROME 3; ORW3 (11485 Overlapping PMIDs. View on Twease.org )

+ IPI00642581 - leucine zipper domain protein ROGDI (2 diseases found)

138972 - CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG (259 Overlapping PMIDs. View on Twease.org )
610202 - CATARACT, PULVERULENT, JUVENILE-ONSET (149 Overlapping PMIDs. View on Twease.org )

+ IPI00643699 - CpG-binding protein PHD finger and CXXC domain-containing protein 1 CXXC-type zinc finger protein 1 . CXXC1 (2 diseases found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2341 Overlapping PMIDs. View on Twease.org )
314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (732 Overlapping PMIDs. View on Twease.org )

+ IPI00645577 - leucine zipper domain protein ROGDI (2 diseases found)

138972 - CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG (259 Overlapping PMIDs. View on Twease.org )
610202 - CATARACT, PULVERULENT, JUVENILE-ONSET (149 Overlapping PMIDs. View on Twease.org )

+ IPI00646703 - Sacsin. SACS (2 diseases found)

273390 - TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (12 Overlapping PMIDs. View on Twease.org )
300432 - EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY (11 Overlapping PMIDs. View on Twease.org )

+ IPI00646753 - Extracellular sulfatase Sulf-2 precursor EC 3.1.6.- HSulf-2 . SULF2 (2 diseases found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (31 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (16 Overlapping PMIDs. View on Twease.org )

+ IPI00646801 - Protein O-mannosyl-transferase 1 EC 2.4.1.109 Dolichyl-phosphate- mannose--protein mannosyltransferase 1 . POMT1 (2 diseases found)

607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (311 Overlapping PMIDs. View on Twease.org )
608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (209 Overlapping PMIDs. View on Twease.org )

+ IPI00647917 - Mitochondrial Rho GTPase 2 EC 3.6.5.- MIRO-2 hMiro-2 Ras homolog gene family member T2 . RHOT2 (2 diseases found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (331 Overlapping PMIDs. View on Twease.org )
609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (293 Overlapping PMIDs. View on Twease.org )

+ IPI00741591 - GTF2I repeat domain containing 2B GTF2IRD2B (2 diseases found)

194050 - WILLIAMS-BEUREN SYNDROME; WBS (5 Overlapping PMIDs. View on Twease.org )
609757 - WILLIAMS-BEUREN REGION DUPLICATION SYNDROME (5 Overlapping PMIDs. View on Twease.org )

+ IPI00744879 - Extracellular sulfatase Sulf-2 precursor EC 3.1.6.- HSulf-2 . SULF2 (2 diseases found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (31 Overlapping PMIDs. View on Twease.org )
252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (16 Overlapping PMIDs. View on Twease.org )

+ IPI00783481 - GTF2I repeat domain containing 2B GTF2IRD2B (2 diseases found)

194050 - WILLIAMS-BEUREN SYNDROME; WBS (5 Overlapping PMIDs. View on Twease.org )
609757 - WILLIAMS-BEUREN REGION DUPLICATION SYNDROME (5 Overlapping PMIDs. View on Twease.org )

+ IPI00784002 - Sacsin. SACS (2 diseases found)

273390 - TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (12 Overlapping PMIDs. View on Twease.org )
300432 - EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY (11 Overlapping PMIDs. View on Twease.org )

+ IPI00787779 - platelet endothelial aggregation receptor 1 (2 diseases found)

605735 - PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY (286 Overlapping PMIDs. View on Twease.org )
173400 - PLATELET AGGREGATION, SPONTANEOUS (250 Overlapping PMIDs. View on Twease.org )

+ IPI00788786 - von Willebrand factor precursor vWF . VWF (2 diseases found)

274150 - THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP (3780 Overlapping PMIDs. View on Twease.org )
134500 - FACTOR VIII DEFICIENCY (2568 Overlapping PMIDs. View on Twease.org )

+ IPI00789705 - 2 4-dienoyl-CoA reductase mitochondrial precursor EC 1.3.1.34 2 4- dienoyl-CoA reductase 4-enoyl-CoA reductase . DECR1 (2 diseases found)

609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (650 Overlapping PMIDs. View on Twease.org )
261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (407 Overlapping PMIDs. View on Twease.org )

+ IPI00791653 - Keratin type II cytoskeletal 2 epidermal Cytokeratin-2e K2e CK 2e keratin-2 . KRT2 (2 diseases found)

607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (246 Overlapping PMIDs. View on Twease.org )
607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (143 Overlapping PMIDs. View on Twease.org )

+ IPI00795015 - Sacsin. SACS (2 diseases found)

273390 - TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (12 Overlapping PMIDs. View on Twease.org )
300432 - EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY (11 Overlapping PMIDs. View on Twease.org )

+ IPI00798351 - Pyruvate dehydrogenase E1 component subunit beta mitochondrial precursor EC 1.2.4.1 PDHE1-B . PDHB (2 diseases found)

248600 - MAPLE SYRUP URINE DISEASE (624 Overlapping PMIDs. View on Twease.org )
245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (564 Overlapping PMIDs. View on Twease.org )

+ IPI00815713 - Treacle protein Treacher Collins syndrome protein . TCOF1 (2 diseases found)

604830 - MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE (15 Overlapping PMIDs. View on Twease.org )
101805 - ACROFACIAL DYSOSTOSIS, CATANIA TYPE (8 Overlapping PMIDs. View on Twease.org )

+ IPI00815731 - Treacle protein Treacher Collins syndrome protein . TCOF1 (2 diseases found)

604830 - MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE (15 Overlapping PMIDs. View on Twease.org )
101805 - ACROFACIAL DYSOSTOSIS, CATANIA TYPE (8 Overlapping PMIDs. View on Twease.org )

+ IPI00815944 - Treacle protein Treacher Collins syndrome protein . TCOF1 (2 diseases found)

604830 - MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE (15 Overlapping PMIDs. View on Twease.org )
101805 - ACROFACIAL DYSOSTOSIS, CATANIA TYPE (8 Overlapping PMIDs. View on Twease.org )

+ IPI00852700 - Centrosome-associated protein CEP250 Centrosomal protein 2 Centrosomal Nek2-associated protein 1 C-Nap1 . (2 diseases found)

610188 - JOUBERT SYNDROME 5; JBTS5 (503 Overlapping PMIDs. View on Twease.org )
610189 - SENIOR-LOKEN SYNDROME 6; SLSN6 (317 Overlapping PMIDs. View on Twease.org )

+ IPI00853006 - Fibroblast growth factor receptor 2 precursor EC 2.7.10.1 FGFR-2 Keratinocyte growth factor receptor 2 CD332 antigen . FGFR2 (2 diseases found)

605321 - FRONTOOCULAR SYNDROME (177 Overlapping PMIDs. View on Twease.org )
603116 - CDAGS SYNDROME (80 Overlapping PMIDs. View on Twease.org )

+ IPI00853395 - GTF2I repeat domain containing 2B GTF2IRD2B (2 diseases found)

194050 - WILLIAMS-BEUREN SYNDROME; WBS (5 Overlapping PMIDs. View on Twease.org )
609757 - WILLIAMS-BEUREN REGION DUPLICATION SYNDROME (5 Overlapping PMIDs. View on Twease.org )

+ IPI00000070 - Low-density lipoprotein receptor precursor LDL receptor . LDLR (1 disease found)

143890 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT (10336 Overlapping PMIDs. View on Twease.org )

+ IPI00000149 - Caspase-8 precursor EC 3.4.22.61 CASP-8 ICE-like apoptotic protease 5 MORT1-associated CED-3 homolog MACH FADD-homologous ICE CED-3-like protease FADD-like ICE FLICE Apoptotic cysteine protease Apoptotic protease Mch-5 CAP4 CASP8 (1 disease found)

607271 - CASPASE 8 DEFICIENCY (639 Overlapping PMIDs. View on Twease.org )

+ IPI00002449 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00002506 - Dolichyl-phosphate beta-glucosyltransferase EC 2.4.1.117 DolP- glucosyltransferase . ALG5 (1 disease found)

608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (87 Overlapping PMIDs. View on Twease.org )

+ IPI00003327 - ADP-ribosylation factor-like protein 3. ARL3 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (735 Overlapping PMIDs. View on Twease.org )

+ IPI00003479 - Mitogen-activated protein kinase 1 EC 2.7.11.24 Extracellular signal-regulated kinase 2 ERK-2 Mitogen-activated protein kinase 2 MAP kinase 2 MAPK 2 p42-MAPK ERT1 . MAPK1 (1 disease found)

610733 - NOONAN SYNDROME 4; NS4 (2203 Overlapping PMIDs. View on Twease.org )

+ IPI00003802 - Alpha-mannosidase 2 EC 3.2.1.114 Alpha-mannosidase II Mannosyl- oligosaccharide 1 3-1 6-alpha-mannosidase MAN II Golgi alpha- mannosidase II Mannosidase alpha class 2A member 1 . MAN2A1 (1 disease found)

608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (83 Overlapping PMIDs. View on Twease.org )

+ IPI00003968 - NADH dehydrogenase 1 alpha subcomplex subunit 9 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 39 kDa subunit Complex I-39kD CI-39kD . NDUFA9 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (852 Overlapping PMIDs. View on Twease.org )

+ IPI00004101 - Betaine--homocysteine S-methyltransferase 1 EC 2.1.1.5 . BHMT (1 disease found)

606664 - GLYCINE N-METHYLTRANSFERASE DEFICIENCY (224 Overlapping PMIDs. View on Twease.org )

+ IPI00004358 - Glycogen phosphorylase brain form EC 2.4.1.1 . PYGB (1 disease found)

261750 - PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE (1360 Overlapping PMIDs. View on Twease.org )

+ IPI00004409 - Discoidin domain-containing receptor 2 precursor EC 2.7.10.1 Discoidin domain receptor 2 Receptor protein-tyrosine kinase TKT Tyrosine-protein kinase TYRO10 Neurotrophic tyrosine kinase receptor-related 3 CD167b antigen . DDR2 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (113 Overlapping PMIDs. View on Twease.org )

+ IPI00004536 - Guanine nucleotide exchange factor DBS DBL's big sister MCF2- transforming sequence-like protein . MCF2L (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (916 Overlapping PMIDs. View on Twease.org )

+ IPI00005180 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00005401 - Polypeptide N-acetylgalactosaminyltransferase 5 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase 5 UDP- GalNAc polypeptide N-acetylgalactosaminyltransferase 5 Polypeptide GalNAc transferase 5 GalNAc-T5 pp-GaNTase 5 . GALNT5 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (177 Overlapping PMIDs. View on Twease.org )

+ IPI00005587 - Myomesin-2 M-protein 165 kDa titin-associated protein 165 kDa connectin-associated protein . MYOM2 (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (81 Overlapping PMIDs. View on Twease.org )

+ IPI00005793 - AP-3 complex subunit beta-2 Adapter-related protein complex 3 beta-2 subunit Beta3B-adaptin Adaptor protein complex AP-3 beta-2 subunit AP-3 complex beta-2 subunit Clathrin assembly protein complex 3 beta-2 large chain Neuron-specific vesicle c AP3B2 (1 disease found)

300630 - MENTAL RETARDATION, X-LINKED 59; MRX59 (425 Overlapping PMIDs. View on Twease.org )

+ IPI00006067 - GPI-linked NAD P + --arginine ADP-ribosyltransferase 1 precursor EC 2.4.2.31 Mono ADP-ribosyl transferase CD296 antigen . ART1 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (256 Overlapping PMIDs. View on Twease.org )

+ IPI00006114 - Pigment epithelium-derived factor precursor PEDF Serpin-F1 EPC- 1 . SERPINF1 (1 disease found)

267800 - RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE (1656 Overlapping PMIDs. View on Twease.org )

+ IPI00006592 - Peptide methionine sulfoxide reductase EC 1.8.4.11 Protein- methionine-S-oxide reductase PMSR Peptide-methionine S -S-oxide reductase Peptide Met O reductase . MSRA (1 disease found)

250900 - METHIONINE MALABSORPTION SYNDROME (92 Overlapping PMIDs. View on Twease.org )

+ IPI00006817 - Galactosylceramide sulfotransferase EC 2.8.2.11 GalCer sulfotransferase Cerebroside sulfotransferase 3'- phosphoadenylylsulfate galactosylceramide 3'-sulfotransferase 3'- phosphoadenosine-5'-phosphosulfate GalCer sulfotransferase . GAL3ST1 (1 disease found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (335 Overlapping PMIDs. View on Twease.org )

+ IPI00007293 - centrosomal protein 164kDa CEP164 (1 disease found)

610189 - SENIOR-LOKEN SYNDROME 6; SLSN6 (249 Overlapping PMIDs. View on Twease.org )

+ IPI00007321 - Acyl-protein thioesterase 1 EC 3.1.2.- Lysophospholipase 1 Lysophospholipase I . LYPLA1 (1 disease found)

602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (43 Overlapping PMIDs. View on Twease.org )

+ IPI00007943 - STAM-binding protein EC 3.1.2.15 Associated molecule with the SH3 domain of STAM . STAMBP (1 disease found)

300607 - HYPEREKPLEXIA AND EPILEPSY (111 Overlapping PMIDs. View on Twease.org )

+ IPI00008495 - NADH-ubiquinone oxidoreductase chain 4 EC 1.6.5.3 NADH dehydrogenase subunit 4 . MT-ND4 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (728 Overlapping PMIDs. View on Twease.org )

+ IPI00008569 - Synaptobrevin homolog YKT6 EC 2.3.1.- . (1 disease found)

605809 - MYASTHENIA, FAMILIAL INFANTILE, 1 (26 Overlapping PMIDs. View on Twease.org )

+ IPI00008599 - 3-beta-hydroxysteroid-Delta 8 Delta 7 -isomerase EC 5.3.3.5 Cholestenol Delta-isomerase Delta 8 -Delta 7 sterol isomerase D8-D7 sterol isomerase Emopamil-binding protein . EBP (1 disease found)

302960 - CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 (122 Overlapping PMIDs. View on Twease.org )

+ IPI00008865 - Rap guanine nucleotide exchange factor 6 PDZ domain-containing guanine nucleotide exchange factor 2 PDZ-GEF2 RA-GEF-2 . FNIP1 RAPGEF6 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1271 Overlapping PMIDs. View on Twease.org )

+ IPI00009865 - Keratin type I cytoskeletal 10 Cytokeratin-10 CK-10 Keratin-10 K10 . KRT10 (1 disease found)

607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (165 Overlapping PMIDs. View on Twease.org )

+ IPI00009867 - Keratin type II cytoskeletal 5 Cytokeratin-5 CK-5 Keratin-5 K5 58 kDa cytokeratin . KRT5 (1 disease found)

607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (212 Overlapping PMIDs. View on Twease.org )

+ IPI00010101 - Probable polypeptide N-acetylgalactosaminyltransferase 8 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase 8 UDP- GalNAc polypeptide N-acetylgalactosaminyltransferase 8 Polypeptide GalNAc transferase 8 GalNAc-T8 pp-GaNTase 8 . GALNT8 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (183 Overlapping PMIDs. View on Twease.org )

+ IPI00010156 - Mitogen-activated protein kinase 4 EC 2.7.11.24 Extracellular signal-regulated kinase 4 ERK-4 MAP kinase isoform p63 p63- MAPK . MAPK4 (1 disease found)

610733 - NOONAN SYNDROME 4; NS4 (2199 Overlapping PMIDs. View on Twease.org )

+ IPI00010176 - G protein-activated inward rectifier potassium channel 1 GIRK1 Potassium channel inwardly rectifying subfamily J member 3 Inward rectifier K + channel Kir3.1 . KCNJ3 (1 disease found)

610374 - DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (2059 Overlapping PMIDs. View on Twease.org )

+ IPI00010402 - SH3 domain-binding glutamic acid-rich-like protein 3 SH3 domain- binding protein 1 SH3BP-1 . SH3BGRL3 (1 disease found)

300607 - HYPEREKPLEXIA AND EPILEPSY (211 Overlapping PMIDs. View on Twease.org )

+ IPI00010486 - Hermansky-Pudlak syndrome 5 protein Alpha-integrin-binding protein 63 Ruby-eye protein 2 homolog Ru2 . HPS5 (1 disease found)

203300 - HERMANSKY-PUDLAK SYNDROME; HPS (240 Overlapping PMIDs. View on Twease.org )

+ IPI00010845 - NADH dehydrogenase iron-sulfur protein 8 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 23 kDa subunit Complex I-23kD CI-23kD TYKY subunit . NDUFS8 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (883 Overlapping PMIDs. View on Twease.org )

+ IPI00011082 - Claudin-15. CLDN15 (1 disease found)

610153 - DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 (234 Overlapping PMIDs. View on Twease.org )

+ IPI00011290 - Sulfotransferase 1C1 EC 2.8.2.- SULT1C#1 ST1C2 humSULTC2 . SULT1C2 (1 disease found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (79 Overlapping PMIDs. View on Twease.org )

+ IPI00011692 - Involucrin. IVL (1 disease found)

182269 - SMALL PROLINE-RICH PROTEIN 2C; SPRR2C (352 Overlapping PMIDs. View on Twease.org )

+ IPI00011770 - NADH dehydrogenase 1 alpha subcomplex subunit 4 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase MLRQ subunit Complex I-MLRQ CI-MLRQ . NDUFA4 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (632 Overlapping PMIDs. View on Twease.org )

+ IPI00011961 - Sialoadhesin precursor Sialic acid-binding Ig-like lectin 1 Siglec- 1 CD169 antigen . SIGLEC1 (1 disease found)

308220 - IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN (441 Overlapping PMIDs. View on Twease.org )

+ IPI00012318 - Mitogen-activated protein kinase kinase kinase 1 EC 2.7.11.25 MAPK ERK kinase kinase 1 MEK kinase 1 MEKK 1 . MAP3K1 (1 disease found)

610733 - NOONAN SYNDROME 4; NS4 (1947 Overlapping PMIDs. View on Twease.org )

+ IPI00012391 - Adenomatous polyposis coli protein Protein APC . APC (1 disease found)

174900 - JUVENILE POLYPOSIS SYNDROME; JPS (1509 Overlapping PMIDs. View on Twease.org )

+ IPI00012622 - Rho GTPase-activating protein 20 Rho-type GTPase-activating protein 20 . ARHGAP20 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1745 Overlapping PMIDs. View on Twease.org )

+ IPI00012796 - Glutamate decarboxylase 2 EC 4.1.1.15 Glutamate decarboxylase 65 kDa isoform GAD-65 65 kDa glutamic acid decarboxylase . GAD2 (1 disease found)

184850 - STIFF-PERSON SYNDROME; SPS (1303 Overlapping PMIDs. View on Twease.org )

+ IPI00013682 - Ecto-ADP-ribosyltransferase 3 precursor EC 2.4.2.31 NAD P + -- arginine ADP-ribosyltransferase 3 Mono ADP-ribosyl transferase 3 . ART3 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (306 Overlapping PMIDs. View on Twease.org )

+ IPI00014363 - Betaine--homocysteine S-methyltransferase 2 EC 2.1.1.5 . BHMT2 (1 disease found)

606664 - GLYCINE N-METHYLTRANSFERASE DEFICIENCY (224 Overlapping PMIDs. View on Twease.org )

+ IPI00014594 - Podocin. NPHS2 (1 disease found)

610725 - NEPHROTIC SYNDROME, TYPE 3; NPHS3 (137 Overlapping PMIDs. View on Twease.org )

+ IPI00015505 - Hermansky-Pudlak syndrome 6 protein Ruby-eye protein homolog Ru . HPS6 (1 disease found)

203300 - HERMANSKY-PUDLAK SYNDROME; HPS (294 Overlapping PMIDs. View on Twease.org )

+ IPI00015872 - Tetraspanin-8 Tspan-8 Transmembrane 4 superfamily member 3 Tumor- associated antigen CO-029 . TSPAN8 (1 disease found)

609057 - NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (45 Overlapping PMIDs. View on Twease.org )

+ IPI00015881 - Macrophage colony-stimulating factor 1 precursor CSF-1 MCSF M- CSF Lanimostim . CSF1 (1 disease found)

610910 - PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED (18119 Overlapping PMIDs. View on Twease.org )

+ IPI00015902 - Beta platelet-derived growth factor receptor precursor EC 2.7.10.1 PDGF-R-beta CD140b antigen . PDGFRB (1 disease found)

607907 - DERMATOFIBROSARCOMA PROTUBERANS; DFSP (2338 Overlapping PMIDs. View on Twease.org )

+ IPI00015911 - Dihydrolipoyl dehydrogenase mitochondrial precursor EC 1.8.1.4 Dihydrolipoamide dehydrogenase Glycine cleavage system L protein . DLD (1 disease found)

245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (157 Overlapping PMIDs. View on Twease.org )

+ IPI00016006 - Gephyrin. GPHN (1 disease found)

300607 - HYPEREKPLEXIA AND EPILEPSY (187 Overlapping PMIDs. View on Twease.org )

+ IPI00016743 - Alpha-1 3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A EC 2.4.1.145 UDP-N-acetylglucosamine alpha-1 3-D-mannoside beta- 1 4-N-acetylglucosaminyltransferase IVa N-glycosyl-oligosaccharide- glycoprotein N-acetylglucosaminyltransferas MGAT4A (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (390 Overlapping PMIDs. View on Twease.org )

+ IPI00016915 - Insulin-like growth factor-binding protein 7 precursor IGFBP-7 IBP- 7 IGF-binding protein 7 MAC25 protein Prostacyclin-stimulating factor PGI2-stimulating factor IGFBP-rP1 . IGFBP7 (1 disease found)

270450 - INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (13649 Overlapping PMIDs. View on Twease.org )

+ IPI00017367 - Radixin. RDX (1 disease found)

611022 - DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24 (433 Overlapping PMIDs. View on Twease.org )

+ IPI00017817 - Amyloid beta A4 precursor protein-binding family A member 2 Neuron- specific X11L protein Neuronal Munc18-1-interacting protein 2 Mint-2 Adapter protein X11beta . APBA2 (1 disease found)

605055 - ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY (818 Overlapping PMIDs. View on Twease.org )

+ IPI00018275 - Prion-like protein doppel precursor PrPLP Prion protein 2 . PRND (1 disease found)

123400 - CREUTZFELDT-JAKOB DISEASE; CJD (577 Overlapping PMIDs. View on Twease.org )

+ IPI00018871 - ADP-ribosylation factor-like protein 8B ADP-ribosylation factor-like protein 10C Novel small G protein indispensable for equal chromosome segregation 1 . ARL8B (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (450 Overlapping PMIDs. View on Twease.org )

+ IPI00019231 - Claudin-10 OSP-like protein . CLDN10 (1 disease found)

610153 - DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 (145 Overlapping PMIDs. View on Twease.org )

+ IPI00019988 - N-sulphoglucosamine sulphohydrolase precursor EC 3.10.1.1 Sulfoglucosamine sulfamidase Sulphamidase . SGSH (1 disease found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (12 Overlapping PMIDs. View on Twease.org )

+ IPI00020984 - Calnexin precursor Major histocompatibility complex class I antigen- binding protein p88 p90 IP90 . CANX (1 disease found)

606632 - ODOR, MALE, WOMEN'S CHOICE OF (6731 Overlapping PMIDs. View on Twease.org )

+ IPI00020996 - Insulin-like growth factor-binding protein complex acid labile chain precursor ALS . IGFALS (1 disease found)

270450 - INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (1236 Overlapping PMIDs. View on Twease.org )

+ IPI00021421 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (1 disease found)

609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (20 Overlapping PMIDs. View on Twease.org )

+ IPI00022977 - Creatine kinase B-type EC 2.7.3.2 Creatine kinase B chain B-CK . CKB (1 disease found)

123270 - CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE (2162 Overlapping PMIDs. View on Twease.org )

+ IPI00023868 - Canalicular multispecific organic anion transporter 1 ATP-binding cassette sub-family C member 2 Multidrug resistance-associated protein 2 Canalicular multidrug resistance protein . ABCC2 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (1833 Overlapping PMIDs. View on Twease.org )

+ IPI00024497 - Tuftelin. TUFT1 (1 disease found)

204700 - AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE (10 Overlapping PMIDs. View on Twease.org )

+ IPI00024566 - Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 EC 2.4.1.122 Core 1 beta1 3-galactosyltransferase 1 Core1 UDP- galactose N-acetylgalactosamine-alpha-R beta 1 3-galactosyltransferase 1 Core 1 beta3-Gal-T C1GalT1 Beta 1 3-galact C1GALT1 (1 disease found)

607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D (299 Overlapping PMIDs. View on Twease.org )

+ IPI00024689 - Aquaporin-1 AQP-1 Aquaporin-CHIP Water channel protein for red blood cells and kidney proximal tubule Urine water channel . AQP1 (1 disease found)

144110 - HYPERHIDROSIS PALMARIS ET PLANTARIS (708 Overlapping PMIDs. View on Twease.org )

+ IPI00024757 - Ubiquinol-cytochrome c reductase complex 6.4 kDa protein EC 1.10.2.2 Complex III subunit XI . UQCR (1 disease found)

124000 - MITOCHONDRIAL COMPLEX III DEFICIENCY (666 Overlapping PMIDs. View on Twease.org )

+ IPI00025239 - NADH dehydrogenase iron-sulfur protein 2 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 49 kDa subunit Complex I-49kD CI-49kD . NDUFS2 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (852 Overlapping PMIDs. View on Twease.org )

+ IPI00025273 - Trifunctional purine biosynthetic protein adenosine-3 GART (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (110 Overlapping PMIDs. View on Twease.org )

+ IPI00025344 - NADH dehydrogenase iron-sulfur protein 6 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 13 kDa-A subunit Complex I-13kD-A CI-13kD-A . NDUFS6 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (954 Overlapping PMIDs. View on Twease.org )

+ IPI00025796 - NADH dehydrogenase iron-sulfur protein 3 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 30 kDa subunit Complex I-30kD CI-30kD . NDUFS3 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (1030 Overlapping PMIDs. View on Twease.org )

+ IPI00026358 - Gamma-aminobutyric acid receptor-associated protein-like 2 GABA A receptor-associated protein-like 2 Ganglioside expression factor 2 GEF-2 General protein transport factor p16 MAP1 light chain 3- related protein . GABARAPL2 (1 disease found)

271980 - SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (267 Overlapping PMIDs. View on Twease.org )

+ IPI00026602 - HLA class I histocompatibility antigen B-8 alpha chain precursor MHC class I antigen B*8 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (11174 Overlapping PMIDs. View on Twease.org )

+ IPI00026650 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00026843 - Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide EC 2.7.1.154 Phosphoinositide 3-Kinase-C2-gamma PtdIns-3-kinase C2 gamma PI3K-C2gamma . PIK3C2G (1 disease found)

611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (315 Overlapping PMIDs. View on Twease.org )

+ IPI00028078 - Potassium channel subfamily K member 10 Outward rectifying potassium channel protein TREK-2 TREK-2 K + channel subunit . KCNK10 (1 disease found)

610374 - DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (2110 Overlapping PMIDs. View on Twease.org )

+ IPI00028520 - NADH dehydrogenase flavoprotein 1 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 51 kDa subunit Complex I-51kD CI-51kD NADH dehydrogenase flavoprotein 1 . NDUFV1 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (1245 Overlapping PMIDs. View on Twease.org )

+ IPI00028911 - Dystroglycan precursor Dystrophin-associated glycoprotein 1 . DAG1 (1 disease found)

608765 - SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 (429 Overlapping PMIDs. View on Twease.org )

+ IPI00029235 - Insulin-like growth factor-binding protein 6 precursor IGFBP-6 IBP- 6 IGF-binding protein 6 . IGFBP6 (1 disease found)

270450 - INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (14311 Overlapping PMIDs. View on Twease.org )

+ IPI00029236 - Insulin-like growth factor-binding protein 5 precursor IGFBP-5 IBP- 5 IGF-binding protein 5 . IGFBP5 (1 disease found)

270450 - INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (14110 Overlapping PMIDs. View on Twease.org )

+ IPI00029268 - Neutral and basic amino acid transport protein rBAT B 0 + -type amino acid transport protein NBAT D2H . SLC3A1 (1 disease found)

222690 - DIBASICAMINOACIDURIA I (569 Overlapping PMIDs. View on Twease.org )

+ IPI00029455 - Multidrug resistance-associated protein 6 ATP-binding cassette sub- family C member 6 Anthracycline resistance-associated protein Multi-specific organic anion transporter-E MOAT-E . ABCC6 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (1623 Overlapping PMIDs. View on Twease.org )

+ IPI00029658 - EGF-containing fibulin-like extracellular matrix protein 1 precursor Fibulin-3 FIBL-3 Fibrillin-like protein Extracellular protein S1-5 . EFEMP1 (1 disease found)

604308 - MASS SYNDROME (93 Overlapping PMIDs. View on Twease.org )

+ IPI00030530 - Transmembrane protein 55B EC 3.1.3.- Type I phosphatidylinositol 4 5-bisphosphate 4-phosphatase PtdIns-4 5-P2 4-Ptase I . TMEM55B (1 disease found)

611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (470 Overlapping PMIDs. View on Twease.org )

+ IPI00031386 - Phosphatidylinositol-4 5-bisphosphate 3-kinase catalytic subunit alpha isoform EC 2.7.1.153 PI3-kinase p110 subunit alpha PtdIns-3- kinase p110 PI3K . PIK3CA (1 disease found)

611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (303 Overlapping PMIDs. View on Twease.org )

+ IPI00031410 - FKBP12-rapamycin complex-associated protein FK506-binding protein 12- rapamycin complex-associated protein 1 Rapamycin target protein RAPT1 Mammalian target of rapamycin mTOR . FRAP1 (1 disease found)

611087 - POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE (399 Overlapping PMIDs. View on Twease.org )

+ IPI00031424 - Phosphatidylinositol 4-kinase alpha EC 2.7.1.67 PI4-kinase alpha PtdIns-4-kinase alpha PI4K-alpha . PI4KA (1 disease found)

611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (304 Overlapping PMIDs. View on Twease.org )

+ IPI00031473 - Zinc finger protein 30 Zinc finger protein KOX28 . ZNF30 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2358 Overlapping PMIDs. View on Twease.org )

+ IPI00032392 - Zinc finger protein 256 Bone marrow zinc finger 3 BMZF-3 . ZNF256 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (3390 Overlapping PMIDs. View on Twease.org )

+ IPI00033034 - Dihydrolipoyllysine-residue succinyltransferase component of 2- oxoglutarate dehydrogenase complex mitochondrial precursor EC 2.3.1.61 Dihydrolipoamide succinyltransferase component of 2- oxoglutarate dehydrogenase complex E2 E2K . DLST DLSTP (1 disease found)

245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (536 Overlapping PMIDs. View on Twease.org )

+ IPI00033139 - Alpha-1 3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C EC 2.4.1.145 UDP-N-acetylglucosamine alpha-1 3-D-mannoside beta- 1 4-N-acetylglucosaminyltransferase IVc N-glycosyl-oligosaccharide- glycoprotein N-acetylglucosaminyltransferas MGAT4C (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (349 Overlapping PMIDs. View on Twease.org )

+ IPI00043598 - IKK interacting protein isoform 3.1 (1 disease found)

300301 - ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID (286 Overlapping PMIDs. View on Twease.org )

+ IPI00053596 - RAB19 member RAS oncogene family RAB19 (1 disease found)

164891 - ONCOGENE YUASA (6 Overlapping PMIDs. View on Twease.org )

+ IPI00056369 - Glycine N-acyltransferase-like protein 1 EC 2.3.1.13 Acyl- CoA glycine N-acyltransferase-like protein 1 . GLYATL1 (1 disease found)

214100 - ZELLWEGER SYNDROME; ZS (248 Overlapping PMIDs. View on Twease.org )

+ IPI00061780 - E3 ubiquitin-protein ligase Itchy homolog EC 6.3.2.- Itch Atrophin-1-interacting protein 4 AIP4 NFE2-associated polypeptide 1 NAPP1 . ITCH (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (107 Overlapping PMIDs. View on Twease.org )

+ IPI00063669 - Germ cell-less protein-like 1. GMCL1 GMCL1L (1 disease found)

166950 - OVARIAN TERATOMA (8 Overlapping PMIDs. View on Twease.org )

+ IPI00070943 - Phosphatidylinositol 4-kinase alpha EC 2.7.1.67 PI4-kinase alpha PtdIns-4-kinase alpha PI4K-alpha . PI4KA (1 disease found)

611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (304 Overlapping PMIDs. View on Twease.org )

+ IPI00073318 - Caspase-8 precursor EC 3.4.22.61 CASP-8 ICE-like apoptotic protease 5 MORT1-associated CED-3 homolog MACH FADD-homologous ICE CED-3-like protease FADD-like ICE FLICE Apoptotic cysteine protease Apoptotic protease Mch-5 CAP4 CASP8 (1 disease found)

607271 - CASPASE 8 DEFICIENCY (639 Overlapping PMIDs. View on Twease.org )

+ IPI00074148 - Bullous pemphigoid antigen 1 isoforms 1 2 3 4 5 8 230 kDa bullous pemphigoid antigen BPA Hemidesmosomal plaque protein Dystonia musculorum protein Dystonin Fragment . DST (1 disease found)

226650 - EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB (209 Overlapping PMIDs. View on Twease.org )

+ IPI00074943 - Sal-like protein 3 Zinc finger protein SALL3 hSALL3 . SALL3 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (941 Overlapping PMIDs. View on Twease.org )

+ IPI00084746 - HLA-B associated transcript-2 BAT2 (1 disease found)

151620 - LICHEN PLANUS, FAMILIAL (282 Overlapping PMIDs. View on Twease.org )

+ IPI00095891 - Guanine nucleotide-binding protein G s subunit alpha isoforms XLas Adenylate cyclase-stimulating G alpha protein Extra large alphas protein XLalphas . GNAS (1 disease found)

103580 - ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO (1616 Overlapping PMIDs. View on Twease.org )

+ IPI00098902 - 2-oxoglutarate dehydrogenase E1 component mitochondrial precursor EC 1.2.4.2 Alpha-ketoglutarate dehydrogenase . OGDH (1 disease found)

245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (362 Overlapping PMIDs. View on Twease.org )

+ IPI00102300 - glycoprotein VI platelet isoform 1 (1 disease found)

273800 - THROMBASTHENIA OF GLANZMANN AND NAEGELI (233 Overlapping PMIDs. View on Twease.org )

+ IPI00107731 - osteoclast-associated receptor isoform 1 OSCAR (1 disease found)

123880 - CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE (40 Overlapping PMIDs. View on Twease.org )

+ IPI00144003 - Sal-like protein 2 Zinc finger protein SALL2 HSal2 . SALL2 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (937 Overlapping PMIDs. View on Twease.org )

+ IPI00152007 - Rho guanine nucleotide exchange factor 17 164 kDa Rho-specific guanine-nucleotide exchange factor p164RhoGEF p164-RhoGEF Tumor endothelial marker 4 . ARHGEF17 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1092 Overlapping PMIDs. View on Twease.org )

+ IPI00152018 - CD300 molecule-like family member g CD300LG (1 disease found)

112440 - BRACHYDACTYLY, COMBINED B AND E TYPES (11 Overlapping PMIDs. View on Twease.org )

+ IPI00152653 - Ciliary dynein heavy chain 5 Axonemal beta dynein heavy chain 5 HL1 . DNAH5 (1 disease found)

244400 - KARTAGENER SYNDROME (601 Overlapping PMIDs. View on Twease.org )

+ IPI00160130 - Cubilin precursor Intrinsic factor-cobalamin receptor Intrinsic factor-vitamin B12 receptor 460 kDa receptor Intestinal intrinsic factor receptor . CUBN (1 disease found)

170900 - PERNICIOUS ANEMIA (5246 Overlapping PMIDs. View on Twease.org )

+ IPI00166004 - Olfactory receptor 52I1 Olfactory receptor OR11-13 . OR52I1 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (381 Overlapping PMIDs. View on Twease.org )

+ IPI00166663 - epidermal retinal dehydrogenase 2 (1 disease found)

266400 - REESE RETINAL DYSPLASIA (8 Overlapping PMIDs. View on Twease.org )

+ IPI00166684 - NADH dehydrogenase 1 beta subcomplex subunit 4 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase B15 subunit Complex I-B15 CI-B15 . NDUFB4 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (628 Overlapping PMIDs. View on Twease.org )

+ IPI00166996 - E3 ubiquitin-protein ligase synoviolin precursor EC 6.3.2.- Synovial apoptosis inhibitor 1 . SYVN1 (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (154 Overlapping PMIDs. View on Twease.org )

+ IPI00167391 - Protein FAM123B Wilms tumor gene on the X chromosome protein . (1 disease found)

194070 - WILMS TUMOR 1; WT1 (441 Overlapping PMIDs. View on Twease.org )

+ IPI00167501 - ADP-ribosylation factor-like protein 10. ARL10 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (740 Overlapping PMIDs. View on Twease.org )

+ IPI00168156 - Glycine N-acyltransferase-like protein 1 EC 2.3.1.13 Acyl- CoA glycine N-acyltransferase-like protein 1 . GLYATL1 (1 disease found)

214100 - ZELLWEGER SYNDROME; ZS (248 Overlapping PMIDs. View on Twease.org )

+ IPI00168626 - Putative polypeptide N-acetylgalactosaminyltransferase-like protein 4 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase-like protein 4 UDP-GalNAc polypeptide N-acetylgalactosaminyltransferase- like protein 4 Polypeptide GalNAc transferase-lik GALNTL4 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (230 Overlapping PMIDs. View on Twease.org )

+ IPI00168635 - Multidrug resistance-associated protein 7 ATP-binding cassette sub- family C member 10 . ABCC10 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (948 Overlapping PMIDs. View on Twease.org )

+ IPI00168969 - Olfactory receptor 4M2. OR4M2 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (512 Overlapping PMIDs. View on Twease.org )

+ IPI00169040 - Olfactory receptor 51S1. OR51S1 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (512 Overlapping PMIDs. View on Twease.org )

+ IPI00169179 - Taste receptor type 1 member 3 precursor Sweet taste receptor T1R3 . TAS1R3 (1 disease found)

108320 - ARTICHOKE, MODIFICATION OF TASTE BY (928 Overlapping PMIDs. View on Twease.org )

+ IPI00170770 - PHD finger protein 3. PHF3 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1323 Overlapping PMIDs. View on Twease.org )

+ IPI00171412 - Sulfatase-modifying factor 2 precursor C-alpha-formyglycine- generating enzyme 2 . SUMF2 (1 disease found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (105 Overlapping PMIDs. View on Twease.org )

+ IPI00171494 - dynein cytoplasmic 2 heavy chain 1 DYNC2H1 (1 disease found)

244400 - KARTAGENER SYNDROME (171 Overlapping PMIDs. View on Twease.org )

+ IPI00173435 - Olfactory receptor 4A47 Olfactory receptor OR11-113 . OR4A47 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (493 Overlapping PMIDs. View on Twease.org )

+ IPI00176010 - E3 ubiquitin-protein ligase Itchy homolog EC 6.3.2.- Itch Atrophin-1-interacting protein 4 AIP4 NFE2-associated polypeptide 1 NAPP1 . ITCH (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (107 Overlapping PMIDs. View on Twease.org )

+ IPI00177937 - Protein MICAL-3. (1 disease found)

610153 - DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 (6 Overlapping PMIDs. View on Twease.org )

+ IPI00178743 - Alstrom syndrome protein 1. ALMS1 (1 disease found)

268020 - RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM (6 Overlapping PMIDs. View on Twease.org )

+ IPI00179071 - Nuclear receptor coactivator 6 Amplified in breast cancer protein 3 Cancer-amplified transcriptional coactivator ASC-2 Activating signal cointegrator 2 ASC-2 Peroxisome proliferator-activated receptor-interacting protein PPAR-interacting protei NCOA6 (1 disease found)

604367 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 (2811 Overlapping PMIDs. View on Twease.org )

+ IPI00179298 - E3 ubiquitin-protein ligase HUWE1 EC 6.3.2.- HECT UBA and WWE domain-containing protein 1 URE-B1 Mcl-1 ubiquitin ligase E3 Mule ARF-binding protein 1 ARF-BP1 . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (157 Overlapping PMIDs. View on Twease.org )

+ IPI00180305 - Zinc finger UBR1-type protein 1 Retinoblastoma-associated factor of 600 kDa 600 kDa retinoblastoma protein-associated factor RBAF600 p600 . UBR4 (1 disease found)

174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (64 Overlapping PMIDs. View on Twease.org )

+ IPI00183508 - Twinfilin-1 Protein A6 Protein tyrosine kinase 9 . TWF1 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (3438 Overlapping PMIDs. View on Twease.org )

+ IPI00183526 - Nucleolin Protein C23 . NCL (1 disease found)

609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (153 Overlapping PMIDs. View on Twease.org )

+ IPI00184477 - Gephyrin. GPHN (1 disease found)

300607 - HYPEREKPLEXIA AND EPILEPSY (187 Overlapping PMIDs. View on Twease.org )

+ IPI00215767 - Beta-1 4-galactosyltransferase 1 EC 2.4.1.- Beta-1 4-GalTase 1 Beta4Gal-T1 b4Gal-T1 UDP-galactose beta-N-acetylglucosamine beta- 1 4-galactosyltransferase 1 UDP-Gal beta-GlcNAc beta-1 4- galactosyltransferase 1 B4GALT1 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (932 Overlapping PMIDs. View on Twease.org )

+ IPI00215914 - ADP-ribosylation factor 1. ARF1 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (813 Overlapping PMIDs. View on Twease.org )

+ IPI00215918 - ADP-ribosylation factor 4. ARF4 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (813 Overlapping PMIDs. View on Twease.org )

+ IPI00215919 - ADP-ribosylation factor 5. ARF5 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (822 Overlapping PMIDs. View on Twease.org )

+ IPI00215920 - ADP-ribosylation factor 6. ARF6 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (810 Overlapping PMIDs. View on Twease.org )

+ IPI00216008 - Glucose-6-phosphate 1-dehydrogenase EC 1.1.1.49 G6PD . G6PD (1 disease found)

134700 - FAVISM, SUSCEPTIBILITY TO (7751 Overlapping PMIDs. View on Twease.org )

+ IPI00216441 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (1 disease found)

609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (20 Overlapping PMIDs. View on Twease.org )

+ IPI00216653 - Ciliary dynein heavy chain 8 Axonemal beta dynein heavy chain 8 . DNAH8 (1 disease found)

244400 - KARTAGENER SYNDROME (605 Overlapping PMIDs. View on Twease.org )

+ IPI00217345 - UDP-GlcNAc betaGal beta-1 3-N-acetylglucosaminyltransferase 2 EC 2.4.1.- Beta3Gn-T1 BGnT-1 Beta-1 3-galactosyltransferase 7 Beta-1 3-GalTase 7 Beta3Gal-T7 b3Gal-T7 UDP-galactose beta-N- acetylglucosamine beta-1 3-galactosyltransferase 7 U B3GNT2 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (534 Overlapping PMIDs. View on Twease.org )

+ IPI00217405 - E3 ubiquitin-protein ligase UBR1 EC 6.3.2.- N-recognin-1 Ubiquitin-protein ligase E3-alpha-1 Ubiquitin-protein ligase E3- alpha-I . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (117 Overlapping PMIDs. View on Twease.org )

+ IPI00217407 - E3 ubiquitin-protein ligase UBR2 EC 6.3.2.- N-recognin-2 Ubiquitin-protein ligase E3-alpha-2 Ubiquitin-protein ligase E3- alpha-II . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (169 Overlapping PMIDs. View on Twease.org )

+ IPI00217521 - Potassium channel subfamily K member 10 Outward rectifying potassium channel protein TREK-2 TREK-2 K + channel subunit . KCNK10 (1 disease found)

610374 - DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (2110 Overlapping PMIDs. View on Twease.org )

+ IPI00217565 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00217567 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00218013 - Shugoshin-like 2 Tripin . SGOL2 (1 disease found)

268300 - ROBERTS SYNDROME; RBS (34 Overlapping PMIDs. View on Twease.org )

+ IPI00218124 - Sal-like protein 3 Zinc finger protein SALL3 hSALL3 . SALL3 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (941 Overlapping PMIDs. View on Twease.org )

+ IPI00218130 - Glycogen phosphorylase muscle form EC 2.4.1.1 Myophosphorylase . PYGM (1 disease found)

261750 - PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE (2111 Overlapping PMIDs. View on Twease.org )

+ IPI00218408 - Trifunctional purine biosynthetic protein adenosine-3 GART (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (110 Overlapping PMIDs. View on Twease.org )

+ IPI00218413 - Biotinidase precursor EC 3.5.1.12 . BTD (1 disease found)

607483 - BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE (20 Overlapping PMIDs. View on Twease.org )

+ IPI00218493 - Hypoxanthine-guanine phosphoribosyltransferase EC 2.4.2.8 HGPRT HGPRTase . HPRT1 (1 disease found)

300323 - GOUT, HPRT-RELATED (2161 Overlapping PMIDs. View on Twease.org )

+ IPI00218511 - Tuftelin. TUFT1 (1 disease found)

204700 - AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE (10 Overlapping PMIDs. View on Twease.org )

+ IPI00219383 - NADH dehydrogenase 1 beta subcomplex subunit 3 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase B12 subunit Complex I-B12 CI-B12 . NDUFB3 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (820 Overlapping PMIDs. View on Twease.org )

+ IPI00219602 - Hermansky-Pudlak syndrome 5 protein Alpha-integrin-binding protein 63 Ruby-eye protein 2 homolog Ru2 . HPS5 (1 disease found)

203300 - HERMANSKY-PUDLAK SYNDROME; HPS (240 Overlapping PMIDs. View on Twease.org )

+ IPI00219685 - NADH dehydrogenase 1 alpha subcomplex subunit 13 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase B16.6 subunit Complex I-B16.6 CI-B16.6 Gene associated with retinoic- interferon-induced mortality 19 protein GRIM-19 Cell d NDUFA13 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (320 Overlapping PMIDs. View on Twease.org )

+ IPI00219698 - Sialoadhesin precursor Sialic acid-binding Ig-like lectin 1 Siglec- 1 CD169 antigen . SIGLEC1 (1 disease found)

308220 - IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN (441 Overlapping PMIDs. View on Twease.org )

+ IPI00220063 - NADH dehydrogenase iron-sulfur protein 5 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 15 kDa subunit Complex I-15 kDa CI-15 kDa . NDUFS5 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (823 Overlapping PMIDs. View on Twease.org )

+ IPI00220292 - Ecto-ADP-ribosyltransferase 3 precursor EC 2.4.2.31 NAD P + -- arginine ADP-ribosyltransferase 3 Mono ADP-ribosyl transferase 3 . ART3 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (306 Overlapping PMIDs. View on Twease.org )

+ IPI00220513 - Neurofibromin Neurofibromatosis-related protein NF-1 . NF1 (1 disease found)

162270 - NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 (16 Overlapping PMIDs. View on Twease.org )

+ IPI00220514 - Neurofibromin Neurofibromatosis-related protein NF-1 . NF1 (1 disease found)

162270 - NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 (16 Overlapping PMIDs. View on Twease.org )

+ IPI00220643 - Sulfotransferase 1C1 EC 2.8.2.- SULT1C#1 ST1C2 humSULTC2 . SULT1C2 (1 disease found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (79 Overlapping PMIDs. View on Twease.org )

+ IPI00220726 - Caspase-8 precursor EC 3.4.22.61 CASP-8 ICE-like apoptotic protease 5 MORT1-associated CED-3 homolog MACH FADD-homologous ICE CED-3-like protease FADD-like ICE FLICE Apoptotic cysteine protease Apoptotic protease Mch-5 CAP4 CASP8 (1 disease found)

607271 - CASPASE 8 DEFICIENCY (639 Overlapping PMIDs. View on Twease.org )

+ IPI00220813 - EGF-containing fibulin-like extracellular matrix protein 1 precursor Fibulin-3 FIBL-3 Fibrillin-like protein Extracellular protein S1-5 . EFEMP1 (1 disease found)

604308 - MASS SYNDROME (93 Overlapping PMIDs. View on Twease.org )

+ IPI00220814 - EGF-containing fibulin-like extracellular matrix protein 1 precursor Fibulin-3 FIBL-3 Fibrillin-like protein Extracellular protein S1-5 . EFEMP1 (1 disease found)

604308 - MASS SYNDROME (93 Overlapping PMIDs. View on Twease.org )

+ IPI00220815 - EGF-containing fibulin-like extracellular matrix protein 1 precursor Fibulin-3 FIBL-3 Fibrillin-like protein Extracellular protein S1-5 . EFEMP1 (1 disease found)

604308 - MASS SYNDROME (93 Overlapping PMIDs. View on Twease.org )

+ IPI00220903 - Acyl-coenzyme A thioesterase 11 EC 3.1.2.- Acyl-CoA thioesterase 11 Acyl-CoA thioester hydrolase 11 Brown fat-inducible thioesterase BFIT Adipose-associated thioesterase . ACOT11 (1 disease found)

602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (423 Overlapping PMIDs. View on Twease.org )

+ IPI00221298 - NADH dehydrogenase flavoprotein 1 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 51 kDa subunit Complex I-51kD CI-51kD NADH dehydrogenase flavoprotein 1 . NDUFV1 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (1245 Overlapping PMIDs. View on Twease.org )

+ IPI00232311 - Tyrosine-protein phosphatase non-receptor type substrate 1 precursor SHP substrate 1 SHPS-1 Inhibitory receptor SHPS-1 Signal- regulatory protein alpha-1 Sirp-alpha-1 Sirp-alpha-2 Sirp-alpha- 3 MyD-1 antigen Brain Ig-like molecule with ty SIRPA (1 disease found)

115150 - CARDIOFACIOCUTANEOUS SYNDROME (96 Overlapping PMIDs. View on Twease.org )

+ IPI00235481 - polyamine modulated factor 1 binding protein 1 PMFBP1 (1 disease found)

308800 - KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD (6 Overlapping PMIDs. View on Twease.org )

+ IPI00244663 - Olfactory receptor 5U1 Olfactory receptor OR6-25 Hs6M1-28 . OR5U1 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (248 Overlapping PMIDs. View on Twease.org )

+ IPI00249304 - Peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein EC 3.6.1.- ATP-dependent helicase PRIC285 PPAR-alpha- interacting complex protein 285 PPAR-gamma DBD-interacting protein 1 PDIP1 . (1 disease found)

604367 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 (1551 Overlapping PMIDs. View on Twease.org )

+ IPI00252570 - Germ cell-less protein-like 1. GMCL1 GMCL1L (1 disease found)

166950 - OVARIAN TERATOMA (8 Overlapping PMIDs. View on Twease.org )

+ IPI00257239 - UDP-GlcNAc betaGal beta-1 3-N-acetylglucosaminyltransferase 2 EC 2.4.1.- Beta3Gn-T1 BGnT-1 Beta-1 3-galactosyltransferase 7 Beta-1 3-GalTase 7 Beta3Gal-T7 b3Gal-T7 UDP-galactose beta-N- acetylglucosamine beta-1 3-galactosyltransferase 7 U B3GNT2 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (534 Overlapping PMIDs. View on Twease.org )

+ IPI00289499 - Bifunctional purine biosynthesis protein PURH ATIC (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (116 Overlapping PMIDs. View on Twease.org )

+ IPI00289776 - Probable E3 ubiquitin-protein ligase MYCBP2 EC 6.3.2.- Myc-binding protein 2 Protein associated with Myc Pam highwire rpm-1 protein . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (145 Overlapping PMIDs. View on Twease.org )

+ IPI00289800 - Glucose-6-phosphate 1-dehydrogenase EC 1.1.1.49 G6PD . G6PD (1 disease found)

134700 - FAVISM, SUSCEPTIBILITY TO (7751 Overlapping PMIDs. View on Twease.org )

+ IPI00290916 - meiosis defective 1 (1 disease found)

258150 - OLIGOSYNAPTIC INFERTILITY (1485 Overlapping PMIDs. View on Twease.org )

+ IPI00291328 - NADH dehydrogenase flavoprotein 2 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 24 kDa subunit . NDUFV2 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (795 Overlapping PMIDs. View on Twease.org )

+ IPI00291839 - Rap guanine nucleotide exchange factor 6 PDZ domain-containing guanine nucleotide exchange factor 2 PDZ-GEF2 RA-GEF-2 . FNIP1 RAPGEF6 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1271 Overlapping PMIDs. View on Twease.org )

+ IPI00292150 - Latent-transforming growth factor beta-binding protein 2 precursor LTBP-2 . LTBP2 (1 disease found)

154370 - MAMMASTATIN (2394 Overlapping PMIDs. View on Twease.org )

+ IPI00293026 - elongation factor Tu GTP binding domain containing 1 isoform 2 EFTUD1 (1 disease found)

609060 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 (329 Overlapping PMIDs. View on Twease.org )

+ IPI00293396 - AP-1 complex subunit gamma-1 Adapter-related protein complex 1 gamma- 1 subunit Gamma-adaptin Adaptor protein complex AP-1 gamma-1 subunit Golgi adaptor HA1 AP1 adaptin subunit gamma-1 Clathrin assembly protein complex 1 gamma-1 large chain . AP1G1 (1 disease found)

300630 - MENTAL RETARDATION, X-LINKED 59; MRX59 (705 Overlapping PMIDs. View on Twease.org )

+ IPI00293648 - N-acylglucosamine 2-epimerase EC 5.1.3.8 GlcNAc 2-epimerase N- acetyl-D-glucosamine 2-epimerase AGE Renin-binding protein RnBP . RENBP (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (193 Overlapping PMIDs. View on Twease.org )

+ IPI00294125 - Toll-like receptor 6 precursor CD286 antigen . TLR6 (1 disease found)

610799 - INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 (1008 Overlapping PMIDs. View on Twease.org )

+ IPI00294749 - kinesin family member 27 KIF27 (1 disease found)

604187 - SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 (36 Overlapping PMIDs. View on Twease.org )

+ IPI00295368 - Beta-1 3-galactosyl-O-glycosyl-glycoprotein beta-1 6-N- acetylglucosaminyltransferase EC 2.4.1.102 Core 2 branching enzyme Core2-GlcNAc-transferase C2GNT Core 2 GNT . GCNT1 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (305 Overlapping PMIDs. View on Twease.org )

+ IPI00295741 - Cathepsin B precursor EC 3.4.22.1 Cathepsin B1 APP secretase APPS . CTSB (1 disease found)

104300 - ALZHEIMER DISEASE; AD (936 Overlapping PMIDs. View on Twease.org )

+ IPI00296526 - N-acetylglucosamine kinase EC 2.7.1.59 GlcNAc kinase . NAGK (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (494 Overlapping PMIDs. View on Twease.org )

+ IPI00296805 - Tetraspanin-10 Tspan-10 Oculospanin . TSPAN10 (1 disease found)

609057 - NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (104 Overlapping PMIDs. View on Twease.org )

+ IPI00296992 - Tyrosine-protein kinase receptor UFO precursor EC 2.7.10.1 AXL oncogene . AXL (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (287 Overlapping PMIDs. View on Twease.org )

+ IPI00297284 - Insulin-like growth factor-binding protein 2 precursor IGFBP-2 IBP- 2 IGF-binding protein 2 . IGFBP2 (1 disease found)

270450 - INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (13975 Overlapping PMIDs. View on Twease.org )

+ IPI00299512 - Neurofibromin Neurofibromatosis-related protein NF-1 . NF1 (1 disease found)

162270 - NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 (16 Overlapping PMIDs. View on Twease.org )

+ IPI00299571 - Protein disulfide-isomerase A6 precursor EC 5.3.4.1 Protein disulfide isomerase P5 Thioredoxin domain-containing protein 7 . PDIA6 (1 disease found)

610852 - CILIARY DYSKINESIA, PRIMARY, 6 (58 Overlapping PMIDs. View on Twease.org )

+ IPI00300026 - Sulfotransferase 1A1 EC 2.8.2.1 Aryl sulfotransferase 1 Phenol sulfotransferase 1 Phenol-sulfating phenol sulfotransferase 1 P- PST 1 Thermostable phenol sulfotransferase Ts-PST HAST1 HAST2 ST1A3 . SULT1A1 (1 disease found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (115 Overlapping PMIDs. View on Twease.org )

+ IPI00300321 - Ribosomal protein S6 kinase alpha-2 EC 2.7.11.1 S6K-alpha 2 90 kDa ribosomal protein S6 kinase 2 p90-RSK 2 Ribosomal S6 kinase 3 RSK-3 pp90RSK3 MAP kinase-activated protein kinase 1c MAPKAPK1C . RPS6KA2 (1 disease found)

611087 - POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE (113 Overlapping PMIDs. View on Twease.org )

+ IPI00301579 - Epididymal secretory protein E1 precursor Niemann-Pick disease type C2 protein hE1 . NPC2 (1 disease found)

257220 - NIEMANN-PICK DISEASE, TYPE C1; NPC1 (777 Overlapping PMIDs. View on Twease.org )

+ IPI00302688 - Enoyl-CoA hydratase domain-containing protein 1. ECHDC1 (1 disease found)

261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (705 Overlapping PMIDs. View on Twease.org )

+ IPI00303335 - Nebulin. NEB (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (100 Overlapping PMIDs. View on Twease.org )

+ IPI00303432 - Olfactory receptor 56A4. OR56A4 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (512 Overlapping PMIDs. View on Twease.org )

+ IPI00305383 - Ubiquinol-cytochrome-c reductase complex core protein 2 mitochondrial precursor EC 1.10.2.2 Core protein II Complex III subunit II . UQCRC2 (1 disease found)

124000 - MITOCHONDRIAL COMPLEX III DEFICIENCY (1972 Overlapping PMIDs. View on Twease.org )

+ IPI00305894 - Acyl-coenzyme A thioesterase 11 EC 3.1.2.- Acyl-CoA thioesterase 11 Acyl-CoA thioester hydrolase 11 Brown fat-inducible thioesterase BFIT Adipose-associated thioesterase . ACOT11 (1 disease found)

602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (423 Overlapping PMIDs. View on Twease.org )

+ IPI00306322 - Collagen alpha-2 IV chain precursor . COL4A2 (1 disease found)

233450 - GOODPASTURE SYNDROME (2362 Overlapping PMIDs. View on Twease.org )

+ IPI00328113 - Fibrillin-1 precursor. FBN1 (1 disease found)

604308 - MASS SYNDROME (333 Overlapping PMIDs. View on Twease.org )

+ IPI00328257 - AP-1 complex subunit beta-1 Adapter-related protein complex 1 beta-1 subunit Beta-adaptin 1 Adaptor protein complex AP-1 beta-1 subunit Golgi adaptor HA1 AP1 adaptin beta subunit Clathrin assembly protein complex 1 beta large chain . AP1B1 (1 disease found)

300630 - MENTAL RETARDATION, X-LINKED 59; MRX59 (665 Overlapping PMIDs. View on Twease.org )

+ IPI00328391 - N-acetylgalactosaminyltransferase 7 EC 2.4.1.- Protein-UDP acetylgalactosaminyltransferase 7 UDP-GalNAc polypeptide N- acetylgalactosaminyltransferase 7 Polypeptide GalNAc transferase 7 GalNAc-T7 pp-GaNTase 7 . GALNT7 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (204 Overlapping PMIDs. View on Twease.org )

+ IPI00328703 - Out at first protein homolog precursor HCV NS5A-transactivated protein 13 target protein 2 . OAF (1 disease found)

609532 - HEPATITIS C VIRUS, SUSCEPTIBILITY TO (476 Overlapping PMIDs. View on Twease.org )

+ IPI00328811 - solute carrier organic anion transporter family member 6A1 SLCO6A1 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (95 Overlapping PMIDs. View on Twease.org )

+ IPI00329301 - NADH dehydrogenase 1 alpha subcomplex subunit 11 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase subunit B14.7 Complex I-B14.7 CI-B14.7 . NDUFA11 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (565 Overlapping PMIDs. View on Twease.org )

+ IPI00329497 - Bifunctional heparan sulfate N-deacetylase N-sulfotransferase 3 EC 2.8.2.8 Glucosaminyl N-deacetylase N-sulfotransferase 3 NDST- 3 hNDST-3 N-heparan sulfate sulfotransferase 3 N-HSST 3 NDST3 (1 disease found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (393 Overlapping PMIDs. View on Twease.org )

+ IPI00329583 - spermatogenesis associated 5 SPATA5 (1 disease found)

228300 - FERTILE EUNUCH SYNDROME (794 Overlapping PMIDs. View on Twease.org )

+ IPI00332278 - Transmembrane protein 55B EC 3.1.3.- Type I phosphatidylinositol 4 5-bisphosphate 4-phosphatase PtdIns-4 5-P2 4-Ptase I . TMEM55B (1 disease found)

611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (470 Overlapping PMIDs. View on Twease.org )

+ IPI00332887 - Tyrosine-protein phosphatase non-receptor type substrate 1 precursor SHP substrate 1 SHPS-1 Inhibitory receptor SHPS-1 Signal- regulatory protein alpha-1 Sirp-alpha-1 Sirp-alpha-2 Sirp-alpha- 3 MyD-1 antigen Brain Ig-like molecule with ty SIRPA (1 disease found)

115150 - CARDIOFACIOCUTANEOUS SYNDROME (96 Overlapping PMIDs. View on Twease.org )

+ IPI00334513 - Sulfatase-modifying factor 2 precursor C-alpha-formyglycine- generating enzyme 2 . SUMF2 (1 disease found)

253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (105 Overlapping PMIDs. View on Twease.org )

+ IPI00334769 - Homeobox protein aristaless-like 4. ALX4 (1 disease found)

300004 - CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (25 Overlapping PMIDs. View on Twease.org )

+ IPI00337694 - Rap guanine nucleotide exchange factor 6 PDZ domain-containing guanine nucleotide exchange factor 2 PDZ-GEF2 RA-GEF-2 . FNIP1 RAPGEF6 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1271 Overlapping PMIDs. View on Twease.org )

+ IPI00339379 - Rho guanine nucleotide exchange factor 1 p115-RhoGEF p115RhoGEF 115 kDa guanine nucleotide exchange factor Sub1.5 . ARHGEF1 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1416 Overlapping PMIDs. View on Twease.org )

+ IPI00375205 - Polypeptide N-acetylgalactosaminyltransferase 10 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase 10 UDP- GalNAc polypeptide N-acetylgalactosaminyltransferase 10 Polypeptide GalNAc transferase 10 GalNAc-T10 pp-GaNTase 10 . GALNT10 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (190 Overlapping PMIDs. View on Twease.org )

+ IPI00375220 - Nance-Horan syndrome protein Congenital cataracts and dental anomalies protein . NHS (1 disease found)

209770 - AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION (2564 Overlapping PMIDs. View on Twease.org )

+ IPI00375233 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00375235 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00375236 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00375287 - Dual specificity mitogen-activated protein kinase kinase 5 EC 2.7.12.2 MAP kinase kinase 5 MAPKK 5 MAPK ERK kinase 5 . MAP2K5 (1 disease found)

610733 - NOONAN SYNDROME 4; NS4 (2311 Overlapping PMIDs. View on Twease.org )

+ IPI00376217 - selectin ligand interactor cytoplasmic-1 (1 disease found)

266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C (1020 Overlapping PMIDs. View on Twease.org )

+ IPI00376299 - Olfactory receptor Fragment . OR5AX1 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (416 Overlapping PMIDs. View on Twease.org )

+ IPI00376321 - Rho GTPase-activating protein 30 Rho-type GTPase-activating protein 30 . ARHGAP30 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1770 Overlapping PMIDs. View on Twease.org )

+ IPI00382843 - Major prion protein precursor PrP PrP27-30 PrP33-35C ASCR CD230 antigen . PRNP (1 disease found)

123400 - CREUTZFELDT-JAKOB DISEASE; CJD (1147 Overlapping PMIDs. View on Twease.org )

+ IPI00383111 - Keratin type I cytoskeletal 10 Cytokeratin-10 CK-10 Keratin-10 K10 . KRT10 (1 disease found)

607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (165 Overlapping PMIDs. View on Twease.org )

+ IPI00384013 - Polypeptide N-acetylgalactosaminyltransferase-like protein 2 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase-like protein 2 UDP-GalNAc polypeptide N-acetylgalactosaminyltransferase- like protein 2 Polypeptide GalNAc transferase-like protein GALNTL2 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (235 Overlapping PMIDs. View on Twease.org )

+ IPI00384095 - Nebulin. NEB (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (100 Overlapping PMIDs. View on Twease.org )

+ IPI00384345 - Polypeptide N-acetylgalactosaminyltransferase 10 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase 10 UDP- GalNAc polypeptide N-acetylgalactosaminyltransferase 10 Polypeptide GalNAc transferase 10 GalNAc-T10 pp-GaNTase 10 . GALNT10 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (190 Overlapping PMIDs. View on Twease.org )

+ IPI00384624 - Trifunctional purine biosynthetic protein adenosine-3 GART (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (110 Overlapping PMIDs. View on Twease.org )

+ IPI00385462 - Peroxisomal biogenesis factor 3 Peroxin-3 Peroxisomal assembly protein PEX3 . PEX3 (1 disease found)

214110 - CEREBROHEPATORENAL SYNDROME, VARIANT TYPES (763 Overlapping PMIDs. View on Twease.org )

+ IPI00385754 - Twinfilin-1 Protein A6 Protein tyrosine kinase 9 . TWF1 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (3438 Overlapping PMIDs. View on Twease.org )

+ IPI00386364 - Olfactory receptor 2L2 HTPCRH07 . OR2L2 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (512 Overlapping PMIDs. View on Twease.org )

+ IPI00386497 - 2-oxoglutarate dehydrogenase E1 component mitochondrial precursor EC 1.2.4.2 Alpha-ketoglutarate dehydrogenase . OGDH (1 disease found)

245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (362 Overlapping PMIDs. View on Twease.org )

+ IPI00386910 - RAS-like family 11 member B RASL11B (1 disease found)

609942 - NOONAN SYNDROME 3 (5 Overlapping PMIDs. View on Twease.org )

+ IPI00394815 - round spermatid basic protein 1-like RSBN1L (1 disease found)

605037 - KINESIN FAMILY MEMBER 17; KIF17 (68 Overlapping PMIDs. View on Twease.org )

+ IPI00395605 - Rho guanine nucleotide exchange factor 1 p115-RhoGEF p115RhoGEF 115 kDa guanine nucleotide exchange factor Sub1.5 . ARHGEF1 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1416 Overlapping PMIDs. View on Twease.org )

+ IPI00395699 - SH3 domain containing Ysc84-like 1 SH3YL1 (1 disease found)

300607 - HYPEREKPLEXIA AND EPILEPSY (231 Overlapping PMIDs. View on Twease.org )

+ IPI00395828 - Shugoshin-like 2 Tripin . SGOL2 (1 disease found)

268300 - ROBERTS SYNDROME; RBS (34 Overlapping PMIDs. View on Twease.org )

+ IPI00399121 - kinesin family member 27 KIF27 (1 disease found)

604187 - SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 (36 Overlapping PMIDs. View on Twease.org )

+ IPI00401800 - Mirror-image polydactyly gene 1 protein. MIPOL1 (1 disease found)

263450 - POLYDACTYLY, POSTAXIAL (17 Overlapping PMIDs. View on Twease.org )

+ IPI00411310 - Zinc finger protein 30 Zinc finger protein KOX28 . ZNF30 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2358 Overlapping PMIDs. View on Twease.org )

+ IPI00411601 - kinesin family member 27 KIF27 (1 disease found)

604187 - SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 (36 Overlapping PMIDs. View on Twease.org )

+ IPI00411637 - Galactose-3-O-sulfotransferase 4 EC 2.8.2.- Galbeta1-3GalNAc 3'- sulfotransferase Beta-galactose-3-O-sulfotransferase 4 . GAL3ST4 (1 disease found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (101 Overlapping PMIDs. View on Twease.org )

+ IPI00412430 - Cystinosin. CTNS (1 disease found)

219800 - CYSTINOSIS, NEPHROPATHIC; CTNS (53 Overlapping PMIDs. View on Twease.org )

+ IPI00412433 - Mitogen-activated protein kinase kinase kinase 5 EC 2.7.11.25 MAPK ERK kinase kinase 5 MEK kinase 5 MEKK 5 Apoptosis signal- regulating kinase 1 ASK-1 . MAP3K5 (1 disease found)

610733 - NOONAN SYNDROME 4; NS4 (1669 Overlapping PMIDs. View on Twease.org )

+ IPI00412545 - NADH dehydrogenase 1 alpha subcomplex subunit 5 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 13 kDa-B subunit Complex I-13kD-B CI-13kD-B Complex I subunit B13 . NDUFA5 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (662 Overlapping PMIDs. View on Twease.org )

+ IPI00413518 - Mirror-image polydactyly gene 1 protein. MIPOL1 (1 disease found)

263450 - POLYDACTYLY, POSTAXIAL (17 Overlapping PMIDs. View on Twease.org )

+ IPI00418990 - patched domain containing 3 PTCHD3 (1 disease found)

109400 - BASAL CELL NEVUS SYNDROME; BCNS (15 Overlapping PMIDs. View on Twease.org )

+ IPI00419266 - NADH dehydrogenase 1 alpha subcomplex subunit 6 EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase B14 subunit Complex I-B14 CI-B14 . NDUFA6 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (846 Overlapping PMIDs. View on Twease.org )

+ IPI00419401 - Olfactory receptor 1D5 Olfactory receptor 17-31 OR17-31 . OR1D4 OR1D5 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (294 Overlapping PMIDs. View on Twease.org )

+ IPI00419924 - Olfactory receptor 2T35 Olfactory receptor OR1-66 . OR2T35 (1 disease found)

243450 - ISOVALERIC ACID, INABILITY TO SMELL (434 Overlapping PMIDs. View on Twease.org )

+ IPI00420108 - Dihydrolipoyllysine-residue succinyltransferase component of 2- oxoglutarate dehydrogenase complex mitochondrial precursor EC 2.3.1.61 Dihydrolipoamide succinyltransferase component of 2- oxoglutarate dehydrogenase complex E2 E2K . DLST DLSTP (1 disease found)

245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (536 Overlapping PMIDs. View on Twease.org )

+ IPI00427522 - Peroxisome proliferator-activated receptor-binding protein PBP PPAR-binding protein Thyroid hormone receptor-associated protein complex 220 kDa component Trap220 Thyroid receptor-interacting protein 2 TRIP-2 p53 regulatory protein RB18A Vit MED1 (1 disease found)

604367 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 (1254 Overlapping PMIDs. View on Twease.org )

+ IPI00434580 - Myomesin-1 190 kDa titin-associated protein 190 kDa connectin- associated protein . MYOM1 (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (90 Overlapping PMIDs. View on Twease.org )

+ IPI00440704 - selectin ligand interactor cytoplasmic-1 (1 disease found)

266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C (1020 Overlapping PMIDs. View on Twease.org )

+ IPI00443898 - Solute carrier family 12 member 1 Bumetanide-sensitive sodium- potassium -chloride cotransporter 2 Kidney-specific Na-K-Cl symporter . SLC12A1 (1 disease found)

263800 - GITELMAN SYNDROME (4695 Overlapping PMIDs. View on Twease.org )

+ IPI00444386 - Insulin-like growth factor-binding protein 3 precursor IGFBP-3 IBP- 3 IGF-binding protein 3 . IGFBP3 (1 disease found)

270450 - INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (14164 Overlapping PMIDs. View on Twease.org )

+ IPI00444513 - Glutamate decarboxylase 2 EC 4.1.1.15 Glutamate decarboxylase 65 kDa isoform GAD-65 65 kDa glutamic acid decarboxylase . GAD2 (1 disease found)

184850 - STIFF-PERSON SYNDROME; SPS (1303 Overlapping PMIDs. View on Twease.org )

+ IPI00456479 - Polypeptide N-acetylgalactosaminyltransferase 10 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase 10 UDP- GalNAc polypeptide N-acetylgalactosaminyltransferase 10 Polypeptide GalNAc transferase 10 GalNAc-T10 pp-GaNTase 10 . GALNT10 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (190 Overlapping PMIDs. View on Twease.org )

+ IPI00464990 - Platelet glycoprotein Ib beta chain precursor GP-Ib beta GPIbB GPIb-beta Antigen CD42b-beta CD42c antigen . GP1BB (1 disease found)

273800 - THROMBASTHENIA OF GLANZMANN AND NAEGELI (2806 Overlapping PMIDs. View on Twease.org )

+ IPI00470538 - solute carrier organic anion transporter family member 4C1 SLCO4C1 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (97 Overlapping PMIDs. View on Twease.org )

+ IPI00470593 - E3 ubiquitin-protein ligase MARCH2 EC 6.3.2.- Membrane-associated RING finger protein 2 Membrane-associated RING-CH protein II MARCH-II RING finger protein 172 . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (177 Overlapping PMIDs. View on Twease.org )

+ IPI00470805 - Mediator of DNA damage checkpoint protein 1 Nuclear factor with BRCT domains 1 . MDC1 (1 disease found)

611143 - COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 (1394 Overlapping PMIDs. View on Twease.org )

+ IPI00471951 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00471969 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00472130 - HLA class I histocompatibility antigen B-8 alpha chain precursor MHC class I antigen B*8 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (11174 Overlapping PMIDs. View on Twease.org )

+ IPI00472151 - HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10847 Overlapping PMIDs. View on Twease.org )

+ IPI00472162 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00472207 - ADP-ribosylation factor-like protein 13B ADP-ribosylation factor-like protein 2-like 1 ARL2-like protein 1 . ARL13B (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (616 Overlapping PMIDs. View on Twease.org )

+ IPI00472448 - HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10847 Overlapping PMIDs. View on Twease.org )

+ IPI00472605 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00472800 - HLA class I histocompatibility antigen B-8 alpha chain precursor MHC class I antigen B*8 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (11174 Overlapping PMIDs. View on Twease.org )

+ IPI00472855 - HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10847 Overlapping PMIDs. View on Twease.org )

+ IPI00472903 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00473006 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00473068 - HLA class I histocompatibility antigen B-8 alpha chain precursor MHC class I antigen B*8 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (11174 Overlapping PMIDs. View on Twease.org )

+ IPI00473122 - Mirror-image polydactyly gene 1 protein. MIPOL1 (1 disease found)

263450 - POLYDACTYLY, POSTAXIAL (17 Overlapping PMIDs. View on Twease.org )

+ IPI00473131 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00473139 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00477099 - Guanine nucleotide exchange factor DBS DBL's big sister MCF2- transforming sequence-like protein . MCF2L (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (916 Overlapping PMIDs. View on Twease.org )

+ IPI00477719 - Calnexin precursor Major histocompatibility complex class I antigen- binding protein p88 p90 IP90 . CANX (1 disease found)

606632 - ODOR, MALE, WOMEN'S CHOICE OF (6731 Overlapping PMIDs. View on Twease.org )

+ IPI00477950 - Collagen alpha-2 IV chain precursor . COL4A2 (1 disease found)

233450 - GOODPASTURE SYNDROME (2362 Overlapping PMIDs. View on Twease.org )

+ IPI00478209 - RAB19 member RAS oncogene family RAB19 (1 disease found)

164891 - ONCOGENE YUASA (6 Overlapping PMIDs. View on Twease.org )

+ IPI00478558 - Rho GTPase-activating protein 20 Rho-type GTPase-activating protein 20 . ARHGAP20 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1745 Overlapping PMIDs. View on Twease.org )

+ IPI00479242 - HLA class I histocompatibility antigen B-8 alpha chain precursor MHC class I antigen B*8 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (11174 Overlapping PMIDs. View on Twease.org )

+ IPI00479566 - dynein heavy chain domain 1 DNHD1 (1 disease found)

244400 - KARTAGENER SYNDROME (153 Overlapping PMIDs. View on Twease.org )

+ IPI00513678 - FKBP12-rapamycin complex-associated protein FK506-binding protein 12- rapamycin complex-associated protein 1 Rapamycin target protein RAPT1 Mammalian target of rapamycin mTOR . FRAP1 (1 disease found)

611087 - POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE (399 Overlapping PMIDs. View on Twease.org )

+ IPI00513863 - Ribosomal protein S6 kinase alpha-1 EC 2.7.11.1 S6K-alpha 1 90 kDa ribosomal protein S6 kinase 1 p90-RSK 1 Ribosomal S6 kinase 1 RSK-1 pp90RSK1 p90S6K MAP kinase-activated protein kinase 1a MAPKAPK1A . RPS6KA1 (1 disease found)

611087 - POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE (155 Overlapping PMIDs. View on Twease.org )

+ IPI00514112 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00514183 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00514643 - cAMP-specific 3' 5'-cyclic phosphodiesterase 4D EC 3.1.4.17 DPDE3 PDE43 . PDE4D (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (795 Overlapping PMIDs. View on Twease.org )

+ IPI00549970 - Growth hormone-inducible transmembrane protein Dermal papilla-derived protein 2 Transmembrane BAX inhibitor motif-containing protein 5 . GHITM (1 disease found)

607721 - NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR (55 Overlapping PMIDs. View on Twease.org )

+ IPI00550928 - Enoyl-CoA hydratase domain-containing protein 1. ECHDC1 (1 disease found)

261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (705 Overlapping PMIDs. View on Twease.org )

+ IPI00552460 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (1 disease found)

609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (20 Overlapping PMIDs. View on Twease.org )

+ IPI00552701 - Discs large homolog 3 Synapse-associated protein 102 SAP102 Neuroendocrine-DLG XLMR . DLG3 (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (74 Overlapping PMIDs. View on Twease.org )

+ IPI00552897 - Mediator of DNA damage checkpoint protein 1 Nuclear factor with BRCT domains 1 . MDC1 (1 disease found)

611143 - COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 (1394 Overlapping PMIDs. View on Twease.org )

+ IPI00553131 - UDP-glucose 4-epimerase EC 5.1.3.2 Galactowaldenase UDP-galactose 4-epimerase . GALE (1 disease found)

230350 - GALACTOSE EPIMERASE DEFICIENCY (516 Overlapping PMIDs. View on Twease.org )

+ IPI00554541 - ilvB bacterial acetolactate synthase -like ILVBL OR10B1P (1 disease found)

277100 - VALINEMIA (10 Overlapping PMIDs. View on Twease.org )

+ IPI00556281 - Discoidin domain-containing receptor 2 precursor EC 2.7.10.1 Discoidin domain receptor 2 Receptor protein-tyrosine kinase TKT Tyrosine-protein kinase TYRO10 Neurotrophic tyrosine kinase receptor-related 3 CD167b antigen . DDR2 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (113 Overlapping PMIDs. View on Twease.org )

+ IPI00556619 - thioredoxin domain containing 14 TXNDC14 (1 disease found)

610852 - CILIARY DYSKINESIA, PRIMARY, 6 (39 Overlapping PMIDs. View on Twease.org )

+ IPI00604664 - NADH-ubiquinone oxidoreductase 75 kDa subunit mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 Complex I-75kD CI-75kD . NDUFS1 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (938 Overlapping PMIDs. View on Twease.org )

+ IPI00607852 - Probable E3 ubiquitin-protein ligase MYCBP2 EC 6.3.2.- Myc-binding protein 2 Protein associated with Myc Pam highwire rpm-1 protein . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (145 Overlapping PMIDs. View on Twease.org )

+ IPI00619932 - CREB-binding protein EC 2.3.1.48 . CREBBP (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (150 Overlapping PMIDs. View on Twease.org )

+ IPI00619938 - Rho GTPase-activating protein 30 Rho-type GTPase-activating protein 30 . ARHGAP30 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1770 Overlapping PMIDs. View on Twease.org )

+ IPI00640085 - E3 ubiquitin-protein ligase UBR2 EC 6.3.2.- N-recognin-2 Ubiquitin-protein ligase E3-alpha-2 Ubiquitin-protein ligase E3- alpha-II . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (169 Overlapping PMIDs. View on Twease.org )

+ IPI00640484 - Gap junction beta-1 protein Connexin-32 Cx32 GAP junction 28 kDa liver protein . GJB1 (1 disease found)

607197 - DEAFNESS, AUTOSOMAL RECESSIVE (355 Overlapping PMIDs. View on Twease.org )

+ IPI00640987 - E3 ubiquitin-protein ligase HUWE1 EC 6.3.2.- HECT UBA and WWE domain-containing protein 1 URE-B1 Mcl-1 ubiquitin ligase E3 Mule ARF-binding protein 1 ARF-BP1 . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (157 Overlapping PMIDs. View on Twease.org )

+ IPI00641123 - UDP-glucose 4-epimerase EC 5.1.3.2 Galactowaldenase UDP-galactose 4-epimerase . GALE (1 disease found)

230350 - GALACTOSE EPIMERASE DEFICIENCY (516 Overlapping PMIDs. View on Twease.org )

+ IPI00641946 - Claudin-10 OSP-like protein . CLDN10 (1 disease found)

610153 - DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 (145 Overlapping PMIDs. View on Twease.org )

+ IPI00642080 - Enoyl-CoA hydratase domain-containing protein 1. ECHDC1 (1 disease found)

261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (705 Overlapping PMIDs. View on Twease.org )

+ IPI00642218 - 3-beta-hydroxysteroid-Delta 8 Delta 7 -isomerase EC 5.3.3.5 Cholestenol Delta-isomerase Delta 8 -Delta 7 sterol isomerase D8-D7 sterol isomerase Emopamil-binding protein . EBP (1 disease found)

302960 - CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 (122 Overlapping PMIDs. View on Twease.org )

+ IPI00642620 - Glucose-6-phosphate 1-dehydrogenase EC 1.1.1.49 G6PD . G6PD (1 disease found)

134700 - FAVISM, SUSCEPTIBILITY TO (7751 Overlapping PMIDs. View on Twease.org )

+ IPI00642640 - Discoidin domain-containing receptor 2 precursor EC 2.7.10.1 Discoidin domain receptor 2 Receptor protein-tyrosine kinase TKT Tyrosine-protein kinase TYRO10 Neurotrophic tyrosine kinase receptor-related 3 CD167b antigen . DDR2 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (113 Overlapping PMIDs. View on Twease.org )

+ IPI00642822 - Mediator of DNA damage checkpoint protein 1 Nuclear factor with BRCT domains 1 . MDC1 (1 disease found)

611143 - COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 (1394 Overlapping PMIDs. View on Twease.org )

+ IPI00642946 - FKBP12-rapamycin complex-associated protein FK506-binding protein 12- rapamycin complex-associated protein 1 Rapamycin target protein RAPT1 Mammalian target of rapamycin mTOR . FRAP1 (1 disease found)

611087 - POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE (399 Overlapping PMIDs. View on Twease.org )

+ IPI00643193 - Multidrug resistance-associated protein 7 ATP-binding cassette sub- family C member 10 . ABCC10 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (948 Overlapping PMIDs. View on Twease.org )

+ IPI00643202 - Serpin B12. SERPINB12 (1 disease found)

170900 - PERNICIOUS ANEMIA (9184 Overlapping PMIDs. View on Twease.org )

+ IPI00643392 - Zinc finger UBR1-type protein 1 Retinoblastoma-associated factor of 600 kDa 600 kDa retinoblastoma protein-associated factor RBAF600 p600 . UBR4 (1 disease found)

174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (64 Overlapping PMIDs. View on Twease.org )

+ IPI00643451 - FKBP12-rapamycin complex-associated protein FK506-binding protein 12- rapamycin complex-associated protein 1 Rapamycin target protein RAPT1 Mammalian target of rapamycin mTOR . FRAP1 (1 disease found)

611087 - POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE (399 Overlapping PMIDs. View on Twease.org )

+ IPI00643573 - Discoidin domain-containing receptor 2 precursor EC 2.7.10.1 Discoidin domain receptor 2 Receptor protein-tyrosine kinase TKT Tyrosine-protein kinase TYRO10 Neurotrophic tyrosine kinase receptor-related 3 CD167b antigen . DDR2 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (113 Overlapping PMIDs. View on Twease.org )

+ IPI00643669 - 3-beta-hydroxysteroid-Delta 8 Delta 7 -isomerase EC 5.3.3.5 Cholestenol Delta-isomerase Delta 8 -Delta 7 sterol isomerase D8-D7 sterol isomerase Emopamil-binding protein . EBP (1 disease found)

302960 - CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 (122 Overlapping PMIDs. View on Twease.org )

+ IPI00643901 - Cubilin precursor Intrinsic factor-cobalamin receptor Intrinsic factor-vitamin B12 receptor 460 kDa receptor Intestinal intrinsic factor receptor . CUBN (1 disease found)

170900 - PERNICIOUS ANEMIA (5246 Overlapping PMIDs. View on Twease.org )

+ IPI00644065 - Nuclear receptor coactivator 6 Amplified in breast cancer protein 3 Cancer-amplified transcriptional coactivator ASC-2 Activating signal cointegrator 2 ASC-2 Peroxisome proliferator-activated receptor-interacting protein PPAR-interacting protei NCOA6 (1 disease found)

604367 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 (2811 Overlapping PMIDs. View on Twease.org )

+ IPI00644163 - Ciliary dynein heavy chain 8 Axonemal beta dynein heavy chain 8 . DNAH8 (1 disease found)

244400 - KARTAGENER SYNDROME (605 Overlapping PMIDs. View on Twease.org )

+ IPI00644231 - Cytoplasmic FMR1-interacting protein 1 Specifically Rac1-associated protein 1 Sra-1 p140sra-1 . CYFIP1 (1 disease found)

300624 - FRAGILE X MENTAL RETARDATION SYNDROME (201 Overlapping PMIDs. View on Twease.org )

+ IPI00644339 - UDP-glucose 4-epimerase EC 5.1.3.2 Galactowaldenase UDP-galactose 4-epimerase . GALE (1 disease found)

230350 - GALACTOSE EPIMERASE DEFICIENCY (516 Overlapping PMIDs. View on Twease.org )

+ IPI00644364 - UDP-glucose 4-epimerase EC 5.1.3.2 Galactowaldenase UDP-galactose 4-epimerase . GALE (1 disease found)

230350 - GALACTOSE EPIMERASE DEFICIENCY (516 Overlapping PMIDs. View on Twease.org )

+ IPI00644631 - HLA class I histocompatibility antigen A-26 alpha chain precursor MHC class I antigen A*26 . HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10126 Overlapping PMIDs. View on Twease.org )

+ IPI00644635 - Myomesin-1 190 kDa titin-associated protein 190 kDa connectin- associated protein . MYOM1 (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (90 Overlapping PMIDs. View on Twease.org )

+ IPI00644989 - Protein disulfide-isomerase A6 precursor EC 5.3.4.1 Protein disulfide isomerase P5 Thioredoxin domain-containing protein 7 . PDIA6 (1 disease found)

610852 - CILIARY DYSKINESIA, PRIMARY, 6 (58 Overlapping PMIDs. View on Twease.org )

+ IPI00645630 - Enoyl-CoA hydratase domain-containing protein 1. ECHDC1 (1 disease found)

261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (705 Overlapping PMIDs. View on Twease.org )

+ IPI00645745 - Glucose-6-phosphate 1-dehydrogenase EC 1.1.1.49 G6PD . G6PD (1 disease found)

134700 - FAVISM, SUSCEPTIBILITY TO (7751 Overlapping PMIDs. View on Twease.org )

+ IPI00645805 - Isovaleryl-CoA dehydrogenase mitochondrial precursor EC 1.3.99.10 IVD . IVD (1 disease found)

231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (647 Overlapping PMIDs. View on Twease.org )

+ IPI00646196 - Myomesin-1 190 kDa titin-associated protein 190 kDa connectin- associated protein . MYOM1 (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (90 Overlapping PMIDs. View on Twease.org )

+ IPI00646292 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (1 disease found)

609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (20 Overlapping PMIDs. View on Twease.org )

+ IPI00646635 - Myomesin-1 190 kDa titin-associated protein 190 kDa connectin- associated protein . MYOM1 (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (90 Overlapping PMIDs. View on Twease.org )

+ IPI00646689 - Thioredoxin-like protein 5 14 kDa thioredoxin-related protein TRP14 Protein 42-9-9 . TXNDC17 (1 disease found)

610852 - CILIARY DYSKINESIA, PRIMARY, 6 (55 Overlapping PMIDs. View on Twease.org )

+ IPI00646975 - E3 ubiquitin-protein ligase HUWE1 EC 6.3.2.- HECT UBA and WWE domain-containing protein 1 URE-B1 Mcl-1 ubiquitin ligase E3 Mule ARF-binding protein 1 ARF-BP1 . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (157 Overlapping PMIDs. View on Twease.org )

+ IPI00646978 - Acyl-protein thioesterase 2 EC 3.1.2.- Lysophospholipase II LPL- I . LYPLA2 LYPLA2P1 (1 disease found)

602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (35 Overlapping PMIDs. View on Twease.org )

+ IPI00647020 - Myomesin-1 190 kDa titin-associated protein 190 kDa connectin- associated protein . MYOM1 (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (90 Overlapping PMIDs. View on Twease.org )

+ IPI00647634 - HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10847 Overlapping PMIDs. View on Twease.org )

+ IPI00647786 - Rho guanine nucleotide exchange factor 1 p115-RhoGEF p115RhoGEF 115 kDa guanine nucleotide exchange factor Sub1.5 . ARHGEF1 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (1416 Overlapping PMIDs. View on Twease.org )

+ IPI00651697 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00654689 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00654792 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (1 disease found)

609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (20 Overlapping PMIDs. View on Twease.org )

+ IPI00656087 - Tyrosine-protein phosphatase non-receptor type substrate 1 precursor SHP substrate 1 SHPS-1 Inhibitory receptor SHPS-1 Signal- regulatory protein alpha-1 Sirp-alpha-1 Sirp-alpha-2 Sirp-alpha- 3 MyD-1 antigen Brain Ig-like molecule with ty SIRPA (1 disease found)

115150 - CARDIOFACIOCUTANEOUS SYNDROME (96 Overlapping PMIDs. View on Twease.org )

+ IPI00657647 - Trifunctional purine biosynthetic protein adenosine-3 GART (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (110 Overlapping PMIDs. View on Twease.org )

+ IPI00657700 - Trifunctional purine biosynthetic protein adenosine-3 GART (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (110 Overlapping PMIDs. View on Twease.org )

+ IPI00657768 - Trifunctional purine biosynthetic protein adenosine-3 GART (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (110 Overlapping PMIDs. View on Twease.org )

+ IPI00657858 - Shugoshin-like 2 Tripin . SGOL2 (1 disease found)

268300 - ROBERTS SYNDROME; RBS (34 Overlapping PMIDs. View on Twease.org )

+ IPI00657860 - ADP-ribosyl cyclase 2 precursor EC 3.2.2.5 Cyclic ADP-ribose hydrolase 2 cADPr hydrolase 2 Bone marrow stromal antigen 1 BST- 1 CD157 antigen . BST1 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (222 Overlapping PMIDs. View on Twease.org )

+ IPI00657864 - Trifunctional purine biosynthetic protein adenosine-3 GART (1 disease found)

608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (110 Overlapping PMIDs. View on Twease.org )

+ IPI00719342 - solute carrier organic anion transporter family member 4C1 SLCO4C1 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (97 Overlapping PMIDs. View on Twease.org )

+ IPI00738398 - dynein cytoplasmic 2 heavy chain 1 DYNC2H1 (1 disease found)

244400 - KARTAGENER SYNDROME (171 Overlapping PMIDs. View on Twease.org )

+ IPI00740123 - Alstrom syndrome protein 1. ALMS1 (1 disease found)

268020 - RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM (6 Overlapping PMIDs. View on Twease.org )

+ IPI00740909 - Alstrom syndrome protein 1. ALMS1 (1 disease found)

268020 - RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM (6 Overlapping PMIDs. View on Twease.org )

+ IPI00741894 - E3 ubiquitin-protein ligase EDD1 EC 6.3.2.- Hyperplastic discs protein homolog hHYD Progestin-induced protein . UBR5 (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (192 Overlapping PMIDs. View on Twease.org )

+ IPI00742732 - kinesin family member 27 KIF27 (1 disease found)

604187 - SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 (36 Overlapping PMIDs. View on Twease.org )

+ IPI00743696 - Collagen alpha-1 IV chain precursor Arresten . COL4A1 (1 disease found)

233450 - GOODPASTURE SYNDROME (2335 Overlapping PMIDs. View on Twease.org )

+ IPI00743716 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00743946 - Acyl-protein thioesterase 2 EC 3.1.2.- Lysophospholipase II LPL- I . LYPLA2 LYPLA2P1 (1 disease found)

602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (35 Overlapping PMIDs. View on Twease.org )

+ IPI00744685 - Biotinidase precursor EC 3.5.1.12 . BTD (1 disease found)

607483 - BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE (20 Overlapping PMIDs. View on Twease.org )

+ IPI00745384 - PR domain zinc finger protein 15 PR domain-containing protein 15 Zinc finger protein 298 . PRDM15 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (3437 Overlapping PMIDs. View on Twease.org )

+ IPI00745649 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00746104 - elongation factor Tu GTP binding domain containing 1 isoform 2 EFTUD1 (1 disease found)

609060 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 (329 Overlapping PMIDs. View on Twease.org )

+ IPI00746352 - SH3 domain-binding glutamic acid-rich-like protein 3 SH3 domain- binding protein 1 SH3BP-1 . SH3BGRL3 (1 disease found)

300607 - HYPEREKPLEXIA AND EPILEPSY (211 Overlapping PMIDs. View on Twease.org )

+ IPI00746667 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00746734 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00746934 - Zinc finger UBR1-type protein 1 Retinoblastoma-associated factor of 600 kDa 600 kDa retinoblastoma protein-associated factor RBAF600 p600 . UBR4 (1 disease found)

174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (64 Overlapping PMIDs. View on Twease.org )

+ IPI00748343 - Multidrug resistance-associated protein 6 ATP-binding cassette sub- family C member 6 Anthracycline resistance-associated protein Multi-specific organic anion transporter-E MOAT-E . ABCC6 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (1623 Overlapping PMIDs. View on Twease.org )

+ IPI00748935 - Elongator complex protein 4 hELP4 PAX6 neighbor gene protein . ELP4 (1 disease found)

129750 - ECTOPIA PUPILLAE (110 Overlapping PMIDs. View on Twease.org )

+ IPI00748955 - Platelet glycoprotein Ib alpha chain precursor Glycoprotein Ibalpha GP-Ib alpha GPIbA GPIb-alpha Antigen CD42b-alpha CD42b antigen . GP1BA (1 disease found)

273800 - THROMBASTHENIA OF GLANZMANN AND NAEGELI (2878 Overlapping PMIDs. View on Twease.org )

+ IPI00749025 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00759755 - Beta-1 4-galactosyltransferase 1 EC 2.4.1.- Beta-1 4-GalTase 1 Beta4Gal-T1 b4Gal-T1 UDP-galactose beta-N-acetylglucosamine beta- 1 4-galactosyltransferase 1 UDP-Gal beta-GlcNAc beta-1 4- galactosyltransferase 1 B4GALT1 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (932 Overlapping PMIDs. View on Twease.org )

+ IPI00760751 - Glucose-6-phosphate 1-dehydrogenase EC 1.1.1.49 G6PD . G6PD (1 disease found)

134700 - FAVISM, SUSCEPTIBILITY TO (7751 Overlapping PMIDs. View on Twease.org )

+ IPI00782986 - Polypeptide N-acetylgalactosaminyltransferase-like protein 2 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase-like protein 2 UDP-GalNAc polypeptide N-acetylgalactosaminyltransferase- like protein 2 Polypeptide GalNAc transferase-like protein GALNTL2 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (235 Overlapping PMIDs. View on Twease.org )

+ IPI00783200 - Rap guanine nucleotide exchange factor 3 cAMP-regulated guanine nucleotide exchange factor I cAMP-GEFI Exchange factor directly activated by cAMP 1 Epac 1 Rap1 guanine-nucleotide-exchange factor directly activated by cAMP . RAPGEF3 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (719 Overlapping PMIDs. View on Twease.org )

+ IPI00783619 - Glycine N-acyltransferase-like protein 1 EC 2.3.1.13 Acyl- CoA glycine N-acyltransferase-like protein 1 . GLYATL1 (1 disease found)

214100 - ZELLWEGER SYNDROME; ZS (248 Overlapping PMIDs. View on Twease.org )

+ IPI00784458 - Fibrillin-1 precursor. FBN1 (1 disease found)

604308 - MASS SYNDROME (333 Overlapping PMIDs. View on Twease.org )

+ IPI00786841 - HLA class I histocompatibility antigen B-8 alpha chain precursor MHC class I antigen B*8 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (11174 Overlapping PMIDs. View on Twease.org )

+ IPI00787127 - Mitogen-activated protein kinase kinase kinase 1 EC 2.7.11.25 MAPK ERK kinase kinase 1 MEK kinase 1 MEKK 1 . MAP3K1 (1 disease found)

610733 - NOONAN SYNDROME 4; NS4 (1947 Overlapping PMIDs. View on Twease.org )

+ IPI00788188 - dynein cytoplasmic 2 heavy chain 1 DYNC2H1 (1 disease found)

244400 - KARTAGENER SYNDROME (171 Overlapping PMIDs. View on Twease.org )

+ IPI00788247 - kinesin family member 26A KIF26A (1 disease found)

604187 - SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 (8 Overlapping PMIDs. View on Twease.org )

+ IPI00788927 - Polypeptide N-acetylgalactosaminyltransferase-like protein 2 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase-like protein 2 UDP-GalNAc polypeptide N-acetylgalactosaminyltransferase- like protein 2 Polypeptide GalNAc transferase-like protein GALNTL2 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (235 Overlapping PMIDs. View on Twease.org )

+ IPI00788996 - Cathepsin B precursor EC 3.4.22.1 Cathepsin B1 APP secretase APPS . CTSB (1 disease found)

104300 - ALZHEIMER DISEASE; AD (936 Overlapping PMIDs. View on Twease.org )

+ IPI00789069 - ADP-ribosylation factor-like protein 8B ADP-ribosylation factor-like protein 10C Novel small G protein indispensable for equal chromosome segregation 1 . ARL8B (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (450 Overlapping PMIDs. View on Twease.org )

+ IPI00789302 - Serpin B12. SERPINB12 (1 disease found)

170900 - PERNICIOUS ANEMIA (9184 Overlapping PMIDs. View on Twease.org )

+ IPI00789407 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00789424 - Biotinidase precursor EC 3.5.1.12 . BTD (1 disease found)

607483 - BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE (20 Overlapping PMIDs. View on Twease.org )

+ IPI00789848 - Isovaleryl-CoA dehydrogenase mitochondrial precursor EC 1.3.99.10 IVD . IVD (1 disease found)

231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (647 Overlapping PMIDs. View on Twease.org )

+ IPI00789896 - Guanine nucleotide exchange factor DBS DBL's big sister MCF2- transforming sequence-like protein . MCF2L (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (916 Overlapping PMIDs. View on Twease.org )

+ IPI00790340 - Cathepsin B precursor EC 3.4.22.1 Cathepsin B1 APP secretase APPS . CTSB (1 disease found)

104300 - ALZHEIMER DISEASE; AD (936 Overlapping PMIDs. View on Twease.org )

+ IPI00790673 - Cytoplasmic FMR1-interacting protein 1 Specifically Rac1-associated protein 1 Sra-1 p140sra-1 . CYFIP1 (1 disease found)

300624 - FRAGILE X MENTAL RETARDATION SYNDROME (201 Overlapping PMIDs. View on Twease.org )

+ IPI00790747 - Peroxisome proliferator-activated receptor-binding protein PBP PPAR-binding protein Thyroid hormone receptor-associated protein complex 220 kDa component Trap220 Thyroid receptor-interacting protein 2 TRIP-2 p53 regulatory protein RB18A Vit MED1 (1 disease found)

604367 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 (1254 Overlapping PMIDs. View on Twease.org )

+ IPI00791268 - ATP-sensitive inward rectifier potassium channel 15 Potassium channel inwardly rectifying subfamily J member 15 Inward rectifier K + channel Kir4.2 Kir1.3 . KCNJ15 (1 disease found)

610374 - DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (2869 Overlapping PMIDs. View on Twease.org )

+ IPI00791591 - Mediator of DNA damage checkpoint protein 1 Nuclear factor with BRCT domains 1 . MDC1 (1 disease found)

611143 - COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 (1394 Overlapping PMIDs. View on Twease.org )

+ IPI00791898 - Alpha-mannosidase 2 EC 3.2.1.114 Alpha-mannosidase II Mannosyl- oligosaccharide 1 3-1 6-alpha-mannosidase MAN II Golgi alpha- mannosidase II Mannosidase alpha class 2A member 1 . MAN2A1 (1 disease found)

608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (83 Overlapping PMIDs. View on Twease.org )

+ IPI00791931 - Dystroglycan precursor Dystrophin-associated glycoprotein 1 . DAG1 (1 disease found)

608765 - SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 (429 Overlapping PMIDs. View on Twease.org )

+ IPI00792132 - Mediator of DNA damage checkpoint protein 1 Nuclear factor with BRCT domains 1 . MDC1 (1 disease found)

611143 - COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 (1394 Overlapping PMIDs. View on Twease.org )

+ IPI00792246 - Polypeptide N-acetylgalactosaminyltransferase-like protein 2 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase-like protein 2 UDP-GalNAc polypeptide N-acetylgalactosaminyltransferase- like protein 2 Polypeptide GalNAc transferase-like protein GALNTL2 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (235 Overlapping PMIDs. View on Twease.org )

+ IPI00792252 - Low-density lipoprotein receptor precursor LDL receptor . LDLR (1 disease found)

143890 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT (10336 Overlapping PMIDs. View on Twease.org )

+ IPI00792330 - ADP-ribosylation factor 4. ARF4 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (813 Overlapping PMIDs. View on Twease.org )

+ IPI00792774 - Guanine nucleotide-binding protein G s subunit alpha isoforms XLas Adenylate cyclase-stimulating G alpha protein Extra large alphas protein XLalphas . GNAS (1 disease found)

103580 - ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO (1616 Overlapping PMIDs. View on Twease.org )

+ IPI00792853 - Rap guanine nucleotide exchange factor 3 cAMP-regulated guanine nucleotide exchange factor I cAMP-GEFI Exchange factor directly activated by cAMP 1 Epac 1 Rap1 guanine-nucleotide-exchange factor directly activated by cAMP . RAPGEF3 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (719 Overlapping PMIDs. View on Twease.org )

+ IPI00793032 - Probable polypeptide N-acetylgalactosaminyltransferase 8 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase 8 UDP- GalNAc polypeptide N-acetylgalactosaminyltransferase 8 Polypeptide GalNAc transferase 8 GalNAc-T8 pp-GaNTase 8 . GALNT8 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (183 Overlapping PMIDs. View on Twease.org )

+ IPI00793079 - Dystroglycan precursor Dystrophin-associated glycoprotein 1 . DAG1 (1 disease found)

608765 - SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 (429 Overlapping PMIDs. View on Twease.org )

+ IPI00793294 - NADH dehydrogenase 1 alpha subcomplex subunit 9 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 39 kDa subunit Complex I-39kD CI-39kD . NDUFA9 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (852 Overlapping PMIDs. View on Twease.org )

+ IPI00793379 - Myomesin-2 M-protein 165 kDa titin-associated protein 165 kDa connectin-associated protein . MYOM2 (1 disease found)

606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (81 Overlapping PMIDs. View on Twease.org )

+ IPI00793568 - Polypeptide N-acetylgalactosaminyltransferase-like protein 2 EC 2.4.1.41 Protein-UDP acetylgalactosaminyltransferase-like protein 2 UDP-GalNAc polypeptide N-acetylgalactosaminyltransferase- like protein 2 Polypeptide GalNAc transferase-like protein GALNTL2 (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (235 Overlapping PMIDs. View on Twease.org )

+ IPI00793597 - Dystroglycan precursor Dystrophin-associated glycoprotein 1 . DAG1 (1 disease found)

608765 - SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 (429 Overlapping PMIDs. View on Twease.org )

+ IPI00793799 - Rap guanine nucleotide exchange factor 3 cAMP-regulated guanine nucleotide exchange factor I cAMP-GEFI Exchange factor directly activated by cAMP 1 Epac 1 Rap1 guanine-nucleotide-exchange factor directly activated by cAMP . RAPGEF3 (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (719 Overlapping PMIDs. View on Twease.org )

+ IPI00793824 - Guanine nucleotide exchange factor DBS DBL's big sister MCF2- transforming sequence-like protein . MCF2L (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (916 Overlapping PMIDs. View on Twease.org )

+ IPI00794279 - PR domain zinc finger protein 15 PR domain-containing protein 15 Zinc finger protein 298 . PRDM15 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (3437 Overlapping PMIDs. View on Twease.org )

+ IPI00794362 - Keratin type II cytoskeletal 5 Cytokeratin-5 CK-5 Keratin-5 K5 58 kDa cytokeratin . KRT5 (1 disease found)

607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (212 Overlapping PMIDs. View on Twease.org )

+ IPI00795103 - Mediator of DNA damage checkpoint protein 1 Nuclear factor with BRCT domains 1 . MDC1 (1 disease found)

611143 - COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 (1394 Overlapping PMIDs. View on Twease.org )

+ IPI00795142 - osteoclast-associated receptor isoform 1 OSCAR (1 disease found)

123880 - CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE (40 Overlapping PMIDs. View on Twease.org )

+ IPI00795146 - E3 ubiquitin-protein ligase UBR1 EC 6.3.2.- N-recognin-1 Ubiquitin-protein ligase E3-alpha-1 Ubiquitin-protein ligase E3- alpha-I . (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (117 Overlapping PMIDs. View on Twease.org )

+ IPI00795197 - Keratin type II cytoskeletal 5 Cytokeratin-5 CK-5 Keratin-5 K5 58 kDa cytokeratin . KRT5 (1 disease found)

607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (212 Overlapping PMIDs. View on Twease.org )

+ IPI00795587 - Alpha-mannosidase 2 EC 3.2.1.114 Alpha-mannosidase II Mannosyl- oligosaccharide 1 3-1 6-alpha-mannosidase MAN II Golgi alpha- mannosidase II Mannosidase alpha class 2A member 1 . MAN2A1 (1 disease found)

608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (83 Overlapping PMIDs. View on Twease.org )

+ IPI00795740 - Zinc finger protein 30 Zinc finger protein KOX28 . ZNF30 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (2358 Overlapping PMIDs. View on Twease.org )

+ IPI00795941 - Alpha-1 3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C EC 2.4.1.145 UDP-N-acetylglucosamine alpha-1 3-D-mannoside beta- 1 4-N-acetylglucosaminyltransferase IVc N-glycosyl-oligosaccharide- glycoprotein N-acetylglucosaminyltransferas MGAT4C (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (349 Overlapping PMIDs. View on Twease.org )

+ IPI00796170 - N-acylglucosamine 2-epimerase EC 5.1.3.8 GlcNAc 2-epimerase N- acetyl-D-glucosamine 2-epimerase AGE Renin-binding protein RnBP . RENBP (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (193 Overlapping PMIDs. View on Twease.org )

+ IPI00796220 - Alpha-1 3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C EC 2.4.1.145 UDP-N-acetylglucosamine alpha-1 3-D-mannoside beta- 1 4-N-acetylglucosaminyltransferase IVc N-glycosyl-oligosaccharide- glycoprotein N-acetylglucosaminyltransferas MGAT4C (1 disease found)

608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (349 Overlapping PMIDs. View on Twease.org )

+ IPI00796221 - Multidrug resistance-associated protein 7 ATP-binding cassette sub- family C member 10 . ABCC10 (1 disease found)

237500 - DUBIN-JOHNSON SYNDROME; DJS (948 Overlapping PMIDs. View on Twease.org )

+ IPI00796279 - Pigment epithelium-derived factor precursor PEDF Serpin-F1 EPC- 1 . SERPINF1 (1 disease found)

267800 - RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE (1656 Overlapping PMIDs. View on Twease.org )

+ IPI00796388 - Peptide methionine sulfoxide reductase EC 1.8.4.11 Protein- methionine-S-oxide reductase PMSR Peptide-methionine S -S-oxide reductase Peptide Met O reductase . MSRA (1 disease found)

250900 - METHIONINE MALABSORPTION SYNDROME (92 Overlapping PMIDs. View on Twease.org )

+ IPI00796410 - CD300 molecule-like family member g CD300LG (1 disease found)

112440 - BRACHYDACTYLY, COMBINED B AND E TYPES (11 Overlapping PMIDs. View on Twease.org )

+ IPI00796627 - NADH dehydrogenase 1 alpha subcomplex subunit 9 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 39 kDa subunit Complex I-39kD CI-39kD . NDUFA9 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (852 Overlapping PMIDs. View on Twease.org )

+ IPI00796667 - Solute carrier family 12 member 1 Bumetanide-sensitive sodium- potassium -chloride cotransporter 2 Kidney-specific Na-K-Cl symporter . SLC12A1 (1 disease found)

263800 - GITELMAN SYNDROME (4695 Overlapping PMIDs. View on Twease.org )

+ IPI00796948 - NADH dehydrogenase iron-sulfur protein 3 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 30 kDa subunit Complex I-30kD CI-30kD . NDUFS3 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (1030 Overlapping PMIDs. View on Twease.org )

+ IPI00797098 - NADH dehydrogenase 1 alpha subcomplex subunit 9 mitochondrial precursor EC 1.6.5.3 EC 1.6.99.3 NADH-ubiquinone oxidoreductase 39 kDa subunit Complex I-39kD CI-39kD . NDUFA9 (1 disease found)

252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (852 Overlapping PMIDs. View on Twease.org )

+ IPI00797323 - Thioredoxin-like protein 5 14 kDa thioredoxin-related protein TRP14 Protein 42-9-9 . TXNDC17 (1 disease found)

610852 - CILIARY DYSKINESIA, PRIMARY, 6 (55 Overlapping PMIDs. View on Twease.org )

+ IPI00797369 - ADP-ribosylation factor-like protein 13B ADP-ribosylation factor-like protein 2-like 1 ARL2-like protein 1 . ARL13B (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (616 Overlapping PMIDs. View on Twease.org )

+ IPI00797933 - Guanine nucleotide exchange factor DBS DBL's big sister MCF2- transforming sequence-like protein . MCF2L (1 disease found)

609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (916 Overlapping PMIDs. View on Twease.org )

+ IPI00815838 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00816410 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00816829 - Twinfilin-1 Protein A6 Protein tyrosine kinase 9 . TWF1 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (3438 Overlapping PMIDs. View on Twease.org )

+ IPI00829673 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00829826 - Peroxisome proliferator-activated receptor-binding protein PBP PPAR-binding protein Thyroid hormone receptor-associated protein complex 220 kDa component Trap220 Thyroid receptor-interacting protein 2 TRIP-2 p53 regulatory protein RB18A Vit MED1 (1 disease found)

604367 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 (1254 Overlapping PMIDs. View on Twease.org )

+ IPI00829903 - Rho GTPase-activating protein 30 Rho-type GTPase-activating protein 30 . ARHGAP30 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1770 Overlapping PMIDs. View on Twease.org )

+ IPI00830067 - Rho GTPase-activating protein 30 Rho-type GTPase-activating protein 30 . ARHGAP30 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1770 Overlapping PMIDs. View on Twease.org )

+ IPI00843837 - E3 ubiquitin-protein ligase Itchy homolog EC 6.3.2.- Itch Atrophin-1-interacting protein 4 AIP4 NFE2-associated polypeptide 1 NAPP1 . ITCH (1 disease found)

300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (107 Overlapping PMIDs. View on Twease.org )

+ IPI00843923 - cAMP-specific 3' 5'-cyclic phosphodiesterase 7B EC 3.1.4.17 . PDE7B (1 disease found)

610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (731 Overlapping PMIDs. View on Twease.org )

+ IPI00843999 - Zinc finger UBR1-type protein 1 Retinoblastoma-associated factor of 600 kDa 600 kDa retinoblastoma protein-associated factor RBAF600 p600 . UBR4 (1 disease found)

174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (64 Overlapping PMIDs. View on Twease.org )

+ IPI00844252 - Rho GTPase-activating protein 20 Rho-type GTPase-activating protein 20 . ARHGAP20 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1745 Overlapping PMIDs. View on Twease.org )

+ IPI00844329 - Hypoxanthine-guanine phosphoribosyltransferase EC 2.4.2.8 HGPRT HGPRTase . HPRT1 (1 disease found)

300323 - GOUT, HPRT-RELATED (2161 Overlapping PMIDs. View on Twease.org )

+ IPI00844419 - Rho GTPase-activating protein 20 Rho-type GTPase-activating protein 20 . ARHGAP20 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1745 Overlapping PMIDs. View on Twease.org )

+ IPI00844475 - HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10847 Overlapping PMIDs. View on Twease.org )

+ IPI00844483 - Rho GTPase-activating protein 20 Rho-type GTPase-activating protein 20 . ARHGAP20 (1 disease found)

300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (1745 Overlapping PMIDs. View on Twease.org )

+ IPI00845228 - Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 EC 2.4.1.122 Core 1 beta1 3-galactosyltransferase 1 Core1 UDP- galactose N-acetylgalactosamine-alpha-R beta 1 3-galactosyltransferase 1 Core 1 beta3-Gal-T C1GalT1 Beta 1 3-galact C1GALT1 (1 disease found)

607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D (299 Overlapping PMIDs. View on Twease.org )

+ IPI00845391 - AP-1 complex subunit gamma-1 Adapter-related protein complex 1 gamma- 1 subunit Gamma-adaptin Adaptor protein complex AP-1 gamma-1 subunit Golgi adaptor HA1 AP1 adaptin subunit gamma-1 Clathrin assembly protein complex 1 gamma-1 large chain . AP1G1 (1 disease found)

300630 - MENTAL RETARDATION, X-LINKED 59; MRX59 (705 Overlapping PMIDs. View on Twease.org )

+ IPI00845436 - ADP-ribosylation factor 4. ARF4 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (813 Overlapping PMIDs. View on Twease.org )

+ IPI00845452 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00847347 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00847412 - Galactose-3-O-sulfotransferase 4 EC 2.8.2.- Galbeta1-3GalNAc 3'- sulfotransferase Beta-galactose-3-O-sulfotransferase 4 . GAL3ST4 (1 disease found)

608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (101 Overlapping PMIDs. View on Twease.org )

+ IPI00847550 - PHD finger protein 3. PHF3 (1 disease found)

603282 - ZINC FINGER PROTEIN 204; ZNF204 (1323 Overlapping PMIDs. View on Twease.org )

+ IPI00847827 - Discoidin domain-containing receptor 2 precursor EC 2.7.10.1 Discoidin domain receptor 2 Receptor protein-tyrosine kinase TKT Tyrosine-protein kinase TYRO10 Neurotrophic tyrosine kinase receptor-related 3 CD167b antigen . DDR2 (1 disease found)

609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (113 Overlapping PMIDs. View on Twease.org )

+ IPI00853064 - Protein MICAL-3. (1 disease found)

610153 - DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 (6 Overlapping PMIDs. View on Twease.org )

+ IPI00853168 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00853208 - Protein MICAL-3. (1 disease found)

610153 - DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 (6 Overlapping PMIDs. View on Twease.org )

+ IPI00853337 - ADP-ribosylation factor 5. ARF5 (1 disease found)

305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (822 Overlapping PMIDs. View on Twease.org )

+ IPI00853342 - Collagen alpha-2 IV chain precursor . COL4A2 (1 disease found)

233450 - GOODPASTURE SYNDROME (2362 Overlapping PMIDs. View on Twease.org )

+ IPI00853473 - HLA class II histocompatibility antigen DR-1 beta chain precursor Clone P2-beta-3 . (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (6951 Overlapping PMIDs. View on Twease.org )

+ IPI00853547 - Glucose-6-phosphate 1-dehydrogenase EC 1.1.1.49 G6PD . G6PD (1 disease found)

134700 - FAVISM, SUSCEPTIBILITY TO (7751 Overlapping PMIDs. View on Twease.org )

+ IPI00853549 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (1 disease found)

609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (20 Overlapping PMIDs. View on Twease.org )

+ IPI00854565 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00854639 - Alstrom syndrome protein 1. ALMS1 (1 disease found)

268020 - RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM (6 Overlapping PMIDs. View on Twease.org )

+ IPI00854738 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )

+ IPI00854852 - HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10847 Overlapping PMIDs. View on Twease.org )

+ IPI00854854 - HLA class I histocompatibility antigen A-3 alpha chain precursor MHC class I antigen A*3 . HLA-A (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10847 Overlapping PMIDs. View on Twease.org )

+ IPI00854855 - HLA class I histocompatibility antigen Cw-5 alpha chain precursor MHC class I antigen Cw*5 . HLA-C (1 disease found)

209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (10014 Overlapping PMIDs. View on Twease.org )