OMIM Diseases - Proteins Report

Result filters:
    At least 5 PMID overlaps

 Twease.org
Institute for Computational Biomedicine
Weill Medical College of Cornell University

 

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 +  603282 - ZINC FINGER PROTEIN 204; ZNF204 (48 proteins found)
 +  209920 - BARE LYMPHOCYTE SYNDROME, TYPE II (42 proteins found)
 +  174100 - POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES (36 proteins found)
 +  314050 - THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS (34 proteins found)
 +  261515 - D-BIFUNCTIONAL PROTEIN DEFICIENCY (32 proteins found)
 +  608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J (30 proteins found)
 +  609016 - LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (29 proteins found)
 +  231690 - GLUTARYL-CoA OXIDASE DEFICIENCY (28 proteins found)
 +  214100 - ZELLWEGER SYNDROME; ZS (25 proteins found)
 +  231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD (25 proteins found)
 +  611126 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF (25 proteins found)
 +  300475 - CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (24 proteins found)
 +  201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (23 proteins found)
 +  201475 - ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (23 proteins found)
 +  602199 - MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (23 proteins found)
 +  252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY (22 proteins found)
 +  609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H (22 proteins found)
 +  201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (21 proteins found)
 +  607936 - EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE (21 proteins found)
 +  300367 - DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA (20 proteins found)
 +  201460 - ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF (19 proteins found)
 +  264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY (19 proteins found)
 +  609638 - EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC (19 proteins found)
 +  305920 - GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE (18 proteins found)
 +  607602 - ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS (17 proteins found)
 +  610227 - SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (17 proteins found)
 +  253230 - MUCOPOLYSACCHARIDOSIS TYPE VIII (16 proteins found)
 +  300354 - MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR (16 proteins found)
 +  125580 - DERMATOGLYPHICS--FINGER RIDGE COUNT (15 proteins found)
 +  602586 - ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 (15 proteins found)
 +  609352 - EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (15 proteins found)
 +  125590 - DERMATOGLYPHICS--FINGERPRINT PATTERN (14 proteins found)
 +  245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY (14 proteins found)
 +  609055 - CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 (14 proteins found)
 +  300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN (13 proteins found)
 +  252300 - MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE (12 proteins found)
 +  608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E (12 proteins found)
 +  266510 - REFSUM DISEASE, INFANTILE FORM (11 proteins found)
 +  608637 - SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE (11 proteins found)
 +  610475 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 (11 proteins found)
 +  611228 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J (11 proteins found)
 +  243450 - ISOVALERIC ACID, INABILITY TO SMELL (10 proteins found)
 +  244400 - KARTAGENER SYNDROME (10 proteins found)
 +  611103 - ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 (10 proteins found)
 +  237500 - DUBIN-JOHNSON SYNDROME; DJS (9 proteins found)
 +  248600 - MAPLE SYRUP URINE DISEASE (9 proteins found)
 +  606842 - CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS (9 proteins found)
 +  609579 - SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (9 proteins found)
 +  118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B (8 proteins found)
 +  118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A (8 proteins found)
 +  605589 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 (8 proteins found)
 +  606175 - CARNITINE ACETYLTRANSFERASE DEFICIENCY (8 proteins found)
 +  607655 - SKIN FRAGILITY-WOOLLY HAIR SYNDROME (8 proteins found)
 +  607678 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D (8 proteins found)
 +  608323 - CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (8 proteins found)
 +  608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF (8 proteins found)
 +  610100 - GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT (8 proteins found)
 +  610852 - CILIARY DYSKINESIA, PRIMARY, 6 (8 proteins found)
 +  300607 - HYPEREKPLEXIA AND EPILEPSY (7 proteins found)
 +  607903 - HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH (7 proteins found)
 +  607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I (7 proteins found)
 +  609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY (7 proteins found)
 +  134700 - FAVISM, SUSCEPTIBILITY TO (6 proteins found)
 +  204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 (6 proteins found)
 +  204500 - CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 (6 proteins found)
 +  231530 - 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (6 proteins found)
 +  256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 (6 proteins found)
 +  270450 - INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (6 proteins found)
 +  604308 - MASS SYNDROME (6 proteins found)
 +  604367 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 (6 proteins found)
 +  607565 - SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (6 proteins found)
 +  608765 - SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 (6 proteins found)
 +  610153 - DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 (6 proteins found)
 +  610733 - NOONAN SYNDROME 4; NS4 (6 proteins found)
 +  611087 - POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE (6 proteins found)
 +  611143 - COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 (6 proteins found)
 +  611283 - ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (6 proteins found)
 +  118301 - CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (5 proteins found)
 +  125370 - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA (5 proteins found)
 +  154370 - MAMMASTATIN (5 proteins found)
 +  164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 (5 proteins found)
 +  183086 - SPINOCEREBELLAR ATAXIA 6; SCA6 (5 proteins found)
 +  233450 - GOODPASTURE SYNDROME (5 proteins found)
 +  300624 - FRAGILE X MENTAL RETARDATION SYNDROME (5 proteins found)
 +  302801 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 (5 proteins found)
 +  302802 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 (5 proteins found)
 +  312170 - PYRUVATE DECARBOXYLASE DEFICIENCY (5 proteins found)
 +  604187 - SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 (5 proteins found)
 +  607831 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K (5 proteins found)
 +  610189 - SENIOR-LOKEN SYNDROME 6; SLSN6 (5 proteins found)
 +  104300 - ALZHEIMER DISEASE; AD (4 proteins found)
 +  105400 - AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 (4 proteins found)
 +  105550 - AMYOTROPHIC LATERAL SCLEROSIS WITH FRONTOTEMPORAL DEMENTIA (4 proteins found)
 +  109150 - MACHADO-JOSEPH DISEASE; MJD (4 proteins found)
 +  164500 - SPINOCEREBELLAR ATAXIA 7; SCA7 (4 proteins found)
 +  170900 - PERNICIOUS ANEMIA (4 proteins found)
 +  183090 - SPINOCEREBELLAR ATAXIA 2; SCA2 (4 proteins found)
 +  194050 - WILLIAMS-BEUREN SYNDROME; WBS (4 proteins found)
 +  203300 - HERMANSKY-PUDLAK SYNDROME; HPS (4 proteins found)
 +  205200 - AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA (4 proteins found)
 +  205250 - AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES (4 proteins found)
 +  230350 - GALACTOSE EPIMERASE DEFICIENCY (4 proteins found)
 +  250100 - METACHROMATIC LEUKODYSTROPHY (4 proteins found)
 +  253700 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C (4 proteins found)
 +  263200 - POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD (4 proteins found)
 +  268020 - RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM (4 proteins found)
 +  300630 - MENTAL RETARDATION, X-LINKED 59; MRX59 (4 proteins found)
 +  310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD (4 proteins found)
 +  313200 - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 (4 proteins found)
 +  601101 - OSLER-RENDU-WEBER SYNDROME 3; ORW3 (4 proteins found)
 +  603116 - CDAGS SYNDROME (4 proteins found)
 +  605321 - FRONTOOCULAR SYNDROME (4 proteins found)
 +  605588 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 (4 proteins found)
 +  606640 - AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 (4 proteins found)
 +  607454 - SPINOCEREBELLAR ATAXIA 21; SCA21 (4 proteins found)
 +  608627 - AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 (4 proteins found)
 +  608687 - SPINOCEREBELLAR ATAXIA 20; SCA20 (4 proteins found)
 +  609757 - WILLIAMS-BEUREN REGION DUPLICATION SYNDROME (4 proteins found)
 +  610188 - JOUBERT SYNDROME 5; JBTS5 (4 proteins found)
 +  610374 - DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (4 proteins found)
 +  101805 - ACROFACIAL DYSOSTOSIS, CATANIA TYPE (3 proteins found)
 +  115150 - CARDIOFACIOCUTANEOUS SYNDROME (3 proteins found)
 +  156200 - MENTAL RETARDATION, DOMINANT (3 proteins found)
 +  162270 - NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 (3 proteins found)
 +  172850 - PIEBALD TRAIT WITH NEUROLOGIC DEFECTS (3 proteins found)
 +  212066 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A (3 proteins found)
 +  212120 - CARDIOGENITAL SYNDROME (3 proteins found)
 +  218650 - CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (3 proteins found)
 +  227250 - FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (3 proteins found)
 +  229120 - FOUNTAIN SYNDROME (3 proteins found)
 +  242670 - IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES (3 proteins found)
 +  243050 - INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION (3 proteins found)
 +  263450 - POLYDACTYLY, POSTAXIAL (3 proteins found)
 +  268300 - ROBERTS SYNDROME; RBS (3 proteins found)
 +  270700 - SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 (3 proteins found)
 +  273390 - TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (3 proteins found)
 +  273800 - THROMBASTHENIA OF GLANZMANN AND NAEGELI (3 proteins found)
 +  300055 - MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM (3 proteins found)
 +  300432 - EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY (3 proteins found)
 +  300551 - MENTAL RETARDATION, X-LINKED 78; MRX78 (3 proteins found)
 +  302960 - CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 (3 proteins found)
 +  311400 - PAINE SYNDROME (3 proteins found)
 +  604830 - MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE (3 proteins found)
 +  606851 - CREE MENTAL RETARDATION SYNDROME (3 proteins found)
 +  607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D (3 proteins found)
 +  607259 - SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 (3 proteins found)
 +  607271 - CASPASE 8 DEFICIENCY (3 proteins found)
 +  607483 - BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE (3 proteins found)
 +  607920 - CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY (3 proteins found)
 +  608890 - WAARDENBURG SYNDROME, TYPE IID (3 proteins found)
 +  609180 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F (3 proteins found)
 +  610357 - SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 (3 proteins found)
 +  611104 - FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4 (3 proteins found)
 +  103580 - ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO (2 proteins found)
 +  108650 - ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS (2 proteins found)
 +  112440 - BRACHYDACTYLY, COMBINED B AND E TYPES (2 proteins found)
 +  123320 - CREATINE PHOSPHOKINASE, ELEVATED SERUM (2 proteins found)
 +  123400 - CREUTZFELDT-JAKOB DISEASE; CJD (2 proteins found)
 +  123880 - CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE (2 proteins found)
 +  124000 - MITOCHONDRIAL COMPLEX III DEFICIENCY (2 proteins found)
 +  134500 - FACTOR VIII DEFICIENCY (2 proteins found)
 +  134520 - FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF (2 proteins found)
 +  134540 - FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF (2 proteins found)
 +  138972 - CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG (2 proteins found)
 +  143890 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT (2 proteins found)
 +  158000 - MONILETHRIX (2 proteins found)
 +  164891 - ONCOGENE YUASA (2 proteins found)
 +  165000 - OPHTHALMOPLEGIA, FAMILIAL STATIC (2 proteins found)
 +  166950 - OVARIAN TERATOMA (2 proteins found)
 +  173200 - PITYRIASIS RUBRA PILARIS (2 proteins found)
 +  173400 - PLATELET AGGREGATION, SPONTANEOUS (2 proteins found)
 +  181400 - AMYOTROPHY, SCAPULOPERONEAL (2 proteins found)
 +  182600 - SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A (2 proteins found)
 +  182601 - SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 (2 proteins found)
 +  182970 - SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE (2 proteins found)
 +  184850 - STIFF-PERSON SYNDROME; SPS (2 proteins found)
 +  201020 - ACROCEPHALOPOLYSYNDACTYLY TYPE IV (2 proteins found)
 +  203750 - ALPHA-METHYLACETOACETIC ACIDURIA (2 proteins found)
 +  204700 - AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE (2 proteins found)
 +  209900 - BARDET-BIEDL SYNDROME; BBS (2 proteins found)
 +  210900 - BLOOM SYNDROME; BLM (2 proteins found)
 +  221600 - DEAFNESS, NEURAL, EARLY ONSET (2 proteins found)
 +  227650 - FANCONI ANEMIA; FA (2 proteins found)
 +  227850 - FANCONI-LIKE SYNDROME (2 proteins found)
 +  245050 - SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY (2 proteins found)
 +  248900 - MAST SYNDROME (2 proteins found)
 +  250620 - BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF (2 proteins found)
 +  250900 - METHIONINE MALABSORPTION SYNDROME (2 proteins found)
 +  253270 - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY (2 proteins found)
 +  253900 - MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS (2 proteins found)
 +  254000 - MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM (2 proteins found)
 +  254100 - MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (2 proteins found)
 +  255110 - CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET (2 proteins found)
 +  256100 - NEPHRONOPHTHISIS 1; NPHP1 (2 proteins found)
 +  261750 - PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE (2 proteins found)
 +  263800 - GITELMAN SYNDROME (2 proteins found)
 +  266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C (2 proteins found)
 +  266900 - SENIOR-LOKEN SYNDROME 1; SLSN1 (2 proteins found)
 +  267800 - RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE (2 proteins found)
 +  268010 - RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS (2 proteins found)
 +  268315 - ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (2 proteins found)
 +  270710 - FITZSIMMONS-GUILBERT SYNDROME (2 proteins found)
 +  270805 - SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY (2 proteins found)
 +  274150 - THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP (2 proteins found)
 +  275900 - SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 (2 proteins found)
 +  276900 - USHER SYNDROME, TYPE I (2 proteins found)
 +  276901 - USHER SYNDROME, TYPE IIA; USH2A (2 proteins found)
 +  276905 - USHER SYNDROME, TYPE IIB; USH2B (2 proteins found)
 +  277700 - WERNER SYNDROME; WRN (2 proteins found)
 +  277900 - WILSON DISEASE (2 proteins found)
 +  300076 - IMMUNONEUROLOGIC DISORDER, X-LINKED (2 proteins found)
 +  300100 - ADRENOLEUKODYSTROPHY; ALD (2 proteins found)
 +  300323 - GOUT, HPRT-RELATED (2 proteins found)
 +  300376 - MUSCULAR DYSTROPHY, BECKER TYPE; BMD (2 proteins found)
 +  300387 - MENTAL RETARDATION, X-LINKED 63; MRX63 (2 proteins found)
 +  308220 - IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN (2 proteins found)
 +  309400 - MENKES DISEASE (2 proteins found)
 +  310000 - MUSCULAR DYSTROPHY, MABRY TYPE (2 proteins found)
 +  312080 - PELIZAEUS-MERZBACHER DISEASE; PMD (2 proteins found)
 +  530000 - KEARNS-SAYRE SYNDROME; KSS (2 proteins found)
 +  557000 - PEARSON MARROW-PANCREAS SYNDROME (2 proteins found)
 +  560000 - RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA DUE TO DUPLICATION OF MITOCHONDRIAL DNA (2 proteins found)
 +  600302 - FRYNS MACROCEPHALY (2 proteins found)
 +  600546 - INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (2 proteins found)
 +  601067 - USHER SYNDROME, TYPE ID; USH1D (2 proteins found)
 +  601287 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F (2 proteins found)
 +  601345 - ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE (2 proteins found)
 +  601386 - DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 (2 proteins found)
 +  601954 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G (2 proteins found)
 +  602092 - DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18 (2 proteins found)
 +  602097 - USHER SYNDROME, TYPE IE; USH1E (2 proteins found)
 +  603041 - MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE (2 proteins found)
 +  603323 - MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY (2 proteins found)
 +  605055 - ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY (2 proteins found)
 +  605229 - SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14 (2 proteins found)
 +  605280 - SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 (2 proteins found)
 +  605735 - PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY (2 proteins found)
 +  605911 - 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OF (2 proteins found)
 +  606528 - HOMOZYGOUS 11p15-p14 DELETION SYNDROME (2 proteins found)
 +  606612 - MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C (2 proteins found)
 +  606632 - ODOR, MALE, WOMEN'S CHOICE OF (2 proteins found)
 +  606664 - GLYCINE N-METHYLTRANSFERASE DEFICIENCY (2 proteins found)
 +  606995 - SENIOR-LOKEN SYNDROME 3; SLSN3 (2 proteins found)
 +  606996 - SENIOR-LOKEN SYNDROME 4; SLSN4 (2 proteins found)
 +  607152 - SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19 (2 proteins found)
 +  607225 - SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP (2 proteins found)
 +  607584 - SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24 (2 proteins found)
 +  607654 - KERATOSIS PALMOPLANTARIS STRIATA III (2 proteins found)
 +  607855 - MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A (2 proteins found)
 +  608840 - MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D (2 proteins found)
 +  609057 - NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (2 proteins found)
 +  609060 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 (2 proteins found)
 +  609195 - SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 (2 proteins found)
 +  609254 - SENIOR-LOKEN SYNDROME 5; SLSN5 (2 proteins found)
 +  609524 - FILAMINOPATHY, AUTOSOMAL DOMINANT (2 proteins found)
 +  609533 - DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 (2 proteins found)
 +  609583 - JOUBERT SYNDROME 4; JBTS4 (2 proteins found)
 +  609727 - SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 (2 proteins found)
 +  609940 - MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY (2 proteins found)
 +  610202 - CATARACT, PULVERULENT, JUVENILE-ONSET (2 proteins found)
 +  610220 - DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 (2 proteins found)
 +  610244 - SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 (2 proteins found)
 +  610688 - JOUBERT SYNDROME 6; JBTS6 (2 proteins found)
 +  610743 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 (2 proteins found)
 +  611134 - MECKEL SYNDROME, TYPE 4; MKS4 (2 proteins found)
 +  611263 - ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 (2 proteins found)
 +  105150 - AMYLOIDOSIS VI (1 protein found)
 +  105200 - AMYLOIDOSIS, FAMILIAL VISCERAL (1 protein found)
 +  105600 - ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3 (1 protein found)
 +  106100 - ANGIOEDEMA, HEREDITARY; HAE (1 protein found)
 +  108320 - ARTICHOKE, MODIFICATION OF TASTE BY (1 protein found)
 +  109400 - BASAL CELL NEVUS SYNDROME; BCNS (1 protein found)
 +  120790 - COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF (1 protein found)
 +  123270 - CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE (1 protein found)
 +  129750 - ECTOPIA PUPILLAE (1 protein found)
 +  131800 - EPIDERMOLYSIS BULLOSA OF HANDS AND FEET (1 protein found)
 +  133700 - EXOSTOSES, MULTIPLE, TYPE I (1 protein found)
 +  133701 - EXOSTOSES, MULTIPLE, TYPE II (1 protein found)
 +  140340 - HAW RIVER SYNDROME (1 protein found)
 +  144110 - HYPERHIDROSIS PALMARIS ET PLANTARIS (1 protein found)
 +  146590 - ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM (1 protein found)
 +  147421 - INCLUSION BODY MYOSITIS (1 protein found)
 +  147530 - INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY (1 protein found)
 +  151620 - LICHEN PLANUS, FAMILIAL (1 protein found)
 +  152700 - SYSTEMIC LUPUS ERYTHEMATOSUS; SLE (1 protein found)
 +  153700 - MACULAR DYSTROPHY, VITELLIFORM; VMD (1 protein found)
 +  153840 - MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1 (1 protein found)
 +  153870 - MACULAR DYSTROPHY, CONCENTRIC ANNULAR (1 protein found)
 +  153890 - MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE (1 protein found)
 +  160900 - DYSTROPHIA MYOTONICA 1 (1 protein found)
 +  173900 - POLYCYSTIC KIDNEYS (1 protein found)
 +  174900 - JUVENILE POLYPOSIS SYNDROME; JPS (1 protein found)
 +  176000 - PORPHYRIA, ACUTE INTERMITTENT (1 protein found)
 +  179840 - RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM (1 protein found)
 +  182269 - SMALL PROLINE-RICH PROTEIN 2C; SPRR2C (1 protein found)
 +  187800 - GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT (1 protein found)
 +  194070 - WILMS TUMOR 1; WT1 (1 protein found)
 +  194470 - ZINC, ELEVATED PLASMA (1 protein found)
 +  203280 - ALBINISM, MINIMAL PIGMENT TYPE (1 protein found)
 +  204110 - AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS (1 protein found)
 +  208870 - ATAXIA-MICROCEPHALY-CATARACT SYNDROME (1 protein found)
 +  208900 - ATAXIA-TELANGIECTASIA; AT (1 protein found)
 +  209770 - AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION (1 protein found)
 +  210350 - BIEMOND SYNDROME II (1 protein found)
 +  214110 - CEREBROHEPATORENAL SYNDROME, VARIANT TYPES (1 protein found)
 +  214900 - CHOLESTASIS-LYMPHEDEMA SYNDROME (1 protein found)
 +  214980 - CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE (1 protein found)
 +  215300 - CHONDROSARCOMA (1 protein found)
 +  216400 - COCKAYNE SYNDROME, TYPE A; CSA (1 protein found)
 +  218340 - CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION (1 protein found)
 +  219800 - CYSTINOSIS, NEPHROPATHIC; CTNS (1 protein found)
 +  222690 - DIBASICAMINOACIDURIA I (1 protein found)
 +  224100 - ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 (1 protein found)
 +  224120 - ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I (1 protein found)
 +  225320 - EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM (1 protein found)
 +  225400 - EHLERS-DANLOS SYNDROME, TYPE VI (1 protein found)
 +  226650 - EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB (1 protein found)
 +  228300 - FERTILE EUNUCH SYNDROME (1 protein found)
 +  248200 - STARGARDT DISEASE 1; STGD1 (1 protein found)
 +  251260 - NIJMEGEN BREAKAGE SYNDROME (1 protein found)
 +  252605 - MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C (1 protein found)
 +  257220 - NIEMANN-PICK DISEASE, TYPE C1; NPC1 (1 protein found)
 +  258150 - OLIGOSYNAPTIC INFERTILITY (1 protein found)
 +  266400 - REESE RETINAL DYSPLASIA (1 protein found)
 +  268080 - RETINOSCHISIS OF FOVEA (1 protein found)
 +  271980 - SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (1 protein found)
 +  277100 - VALINEMIA (1 protein found)
 +  278750 - XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV (1 protein found)
 +  300004 - CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (1 protein found)
 +  300155 - RETINITIS PIGMENTOSA 24; RP24 (1 protein found)
 +  300301 - ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID (1 protein found)
 +  300578 - CHROMOSOME Xp11.3 DELETION SYNDROME (1 protein found)
 +  302000 - BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE (1 protein found)
 +  306800 - HEMOPHILIA A WITH VASCULAR ABNORMALITY (1 protein found)
 +  308800 - KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD (1 protein found)
 +  312612 - RETINITIS PIGMENTOSA 6; RP6 (1 protein found)
 +  600630 - UV-SENSITIVE SYNDROME; UVS (1 protein found)
 +  600666 - POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3 (1 protein found)
 +  600964 - REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA; RDPA (1 protein found)
 +  601794 - COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME (1 protein found)
 +  602668 - DYSTROPHIA MYOTONICA 2; DM2 (1 protein found)
 +  603376 - LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF (1 protein found)
 +  603529 - DYSERYTHROPOIESIS, CONGENITAL, WITH INTERNUCLEAR CHROMATIN BRIDGES AND ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN (1 protein found)
 +  604391 - ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD (1 protein found)
 +  604771 - POLYCYSTIC BONE DISEASE (1 protein found)
 +  604802 - HUNTINGTON DISEASE-LIKE 3; HDL3 (1 protein found)
 +  605037 - KINESIN FAMILY MEMBER 17; KIF17 (1 protein found)
 +  605809 - MYASTHENIA, FAMILIAL INFANTILE, 1 (1 protein found)
 +  607136 - SPINOCEREBELLAR ATAXIA 17; SCA17 (1 protein found)
 +  607197 - DEAFNESS, AUTOSOMAL RECESSIVE (1 protein found)
 +  607475 - BOTHNIA RETINAL DYSTROPHY (1 protein found)
 +  607628 - EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING (1 protein found)
 +  607682 - EPILEPSY, CHILDHOOD ABSENCE, 3 (1 protein found)
 +  607721 - NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR (1 protein found)
 +  607907 - DERMATOFIBROSARCOMA PROTUBERANS; DFSP (1 protein found)
 +  608233 - HERMANSKY-PUDLAK SYNDROME 2; HPS2 (1 protein found)
 +  608644 - CILIARY DYSKINESIA, PRIMARY, 3 (1 protein found)
 +  608970 - MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2 (1 protein found)
 +  609220 - BRUCK SYNDROME 2 (1 protein found)
 +  609532 - HEPATITIS C VIRUS, SUSCEPTIBILITY TO (1 protein found)
 +  609628 - MAJEED SYNDROME (1 protein found)
 +  609820 - ERYTHROCYTOSIS, FAMILIAL, 3 (1 protein found)
 +  609886 - GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA (1 protein found)
 +  609942 - NOONAN SYNDROME 3 (1 protein found)
 +  610629 - DIAMOND-BLACKFAN ANEMIA 3 (1 protein found)
 +  610725 - NEPHROTIC SYNDROME, TYPE 3; NPHS3 (1 protein found)
 +  610756 - CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2 (1 protein found)
 +  610758 - CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 (1 protein found)
 +  610799 - INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 (1 protein found)
 +  610910 - PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED (1 protein found)
 +  611022 - DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24 (1 protein found)
 +  611040 - MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN (1 protein found)
 +  611102 - DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY (1 protein found)