Proteins - MeSH Diseases Report

Result filters:
At least 5 PMID overlaps

Institute for Computational Biomedicine
Weill Medical College of Cornell University

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+ IPI00012448 - Battenin Protein CLN3 Batten disease protein . CLN3 (12 diseases found)

Batten Disease (277 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Spielmeyer Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Spielmeyer-Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Batten-Spielmeyer-Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Batten Spielmeyer Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Jansky Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Jansky-Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Kufs Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00217835 - Battenin Protein CLN3 Batten disease protein . CLN3 (12 diseases found)

Batten Disease (277 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Spielmeyer Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Spielmeyer-Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Batten-Spielmeyer-Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Batten Spielmeyer Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Jansky Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Jansky-Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Kufs Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00217837 - Battenin Protein CLN3 Batten disease protein . CLN3 (12 diseases found)

Batten Disease (277 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Spielmeyer Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Spielmeyer-Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Batten-Spielmeyer-Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Batten Spielmeyer Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Jansky Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Jansky-Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Kufs Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00639963 - Battenin Protein CLN3 Batten disease protein . CLN3 (12 diseases found)

Batten Disease (277 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Spielmeyer Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Spielmeyer-Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Batten-Spielmeyer-Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Batten Spielmeyer Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Jansky Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Jansky-Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Kufs Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00640605 - Battenin Protein CLN3 Batten disease protein . CLN3 (12 diseases found)

Batten Disease (277 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Spielmeyer Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Spielmeyer-Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Batten-Spielmeyer-Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Batten Spielmeyer Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Jansky Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Jansky-Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Kufs Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00644378 - Battenin Protein CLN3 Batten disease protein . CLN3 (12 diseases found)

Batten Disease (277 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (196 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (90 Overlapping PMIDs. View on Twease.org )
Spielmeyer Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Spielmeyer-Vogt Disease (16 Overlapping PMIDs. View on Twease.org )
Batten-Spielmeyer-Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Batten Spielmeyer Vogt Disease (10 Overlapping PMIDs. View on Twease.org )
Jansky Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Jansky-Bielschowsky Disease (7 Overlapping PMIDs. View on Twease.org )
Kufs Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00013933 - Desmoplakin DP 250 210 kDa paraneoplastic pemphigus antigen . DSP (11 diseases found)

Pemphigus (4549 Overlapping PMIDs. View on Twease.org )
Pemphigus Vulgaris (1789 Overlapping PMIDs. View on Twease.org )
Pemphigus Foliaceus (751 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Cerebellar Degeneration (229 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Limbic Encephalitis (77 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Neuropathy (28 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Endocrine Syndromes (18 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Neuropathies (16 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Cerebellar Syndrome (9 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Endocrine Syndrome (6 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Peripheral Neuropathies (5 Overlapping PMIDs. View on Twease.org )

+ IPI00382843 - Major prion protein precursor PrP PrP27-30 PrP33-35C ASCR CD230 antigen . PRNP (11 diseases found)

Scrapie (1354 Overlapping PMIDs. View on Twease.org )
Prion Diseases (1207 Overlapping PMIDs. View on Twease.org )
Transmissible Spongiform Encephalopathies (687 Overlapping PMIDs. View on Twease.org )
Prion Disease (594 Overlapping PMIDs. View on Twease.org )
Transmissible Spongiform Encephalopathy (159 Overlapping PMIDs. View on Twease.org )
Familial Creutzfeldt Jakob Disease (56 Overlapping PMIDs. View on Twease.org )
Familial Creutzfeldt-Jakob Disease (56 Overlapping PMIDs. View on Twease.org )
Gerstmann-Straussler-Scheinker Disease (15 Overlapping PMIDs. View on Twease.org )
Gerstmann Straussler Scheinker Disease (15 Overlapping PMIDs. View on Twease.org )
Gerstmann-Straussler Syndrome (6 Overlapping PMIDs. View on Twease.org )
Gerstmann Straussler Syndrome (6 Overlapping PMIDs. View on Twease.org )

+ IPI00018275 - Prion-like protein doppel precursor PrPLP Prion protein 2 . PRND (9 diseases found)

Prion Diseases (920 Overlapping PMIDs. View on Twease.org )
Prion Disease (465 Overlapping PMIDs. View on Twease.org )
Transmissible Spongiform Encephalopathies (339 Overlapping PMIDs. View on Twease.org )
Familial Creutzfeldt Jakob Disease (37 Overlapping PMIDs. View on Twease.org )
Familial Creutzfeldt-Jakob Disease (37 Overlapping PMIDs. View on Twease.org )
Gerstmann-Straussler-Scheinker Disease (10 Overlapping PMIDs. View on Twease.org )
Gerstmann Straussler Scheinker Disease (10 Overlapping PMIDs. View on Twease.org )
Gerstmann-Straussler Syndrome (6 Overlapping PMIDs. View on Twease.org )
Gerstmann Straussler Syndrome (6 Overlapping PMIDs. View on Twease.org )

+ IPI00298793 - Beta-mannosidase precursor EC 3.2.1.25 Lysosomal beta A mannosidase Mannanase Mannase . MANBA (9 diseases found)

Mannosidosis (67 Overlapping PMIDs. View on Twease.org )
beta-Mannosidosis (27 Overlapping PMIDs. View on Twease.org )
beta Mannosidosis (27 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (22 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (22 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )
beta-Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )
beta Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )

+ IPI00183526 - Nucleolin Protein C23 . NCL (8 diseases found)

Neuronal Ceroid-Lipofuscinosis (238 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (238 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (190 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (190 Overlapping PMIDs. View on Twease.org )
Batten Disease (54 Overlapping PMIDs. View on Twease.org )
Kufs Disease (11 Overlapping PMIDs. View on Twease.org )
Jansky Bielschowsky Disease (8 Overlapping PMIDs. View on Twease.org )
Jansky-Bielschowsky Disease (8 Overlapping PMIDs. View on Twease.org )

+ IPI00301579 - Epididymal secretory protein E1 precursor Niemann-Pick disease type C2 protein hE1 . NPC2 (7 diseases found)

Pick Disease (912 Overlapping PMIDs. View on Twease.org )
Niemann Pick Disease (877 Overlapping PMIDs. View on Twease.org )
Niemann-Pick Disease (877 Overlapping PMIDs. View on Twease.org )
Pick's Disease (249 Overlapping PMIDs. View on Twease.org )
Niemann Pick Diseases (18 Overlapping PMIDs. View on Twease.org )
Niemann-Pick Diseases (18 Overlapping PMIDs. View on Twease.org )
Lobar Atrophy Brain (8 Overlapping PMIDs. View on Twease.org )

+ IPI00022331 - Phosphatidylcholine-sterol acyltransferase precursor EC 2.3.1.43 Lecithin-cholesterol acyltransferase Phospholipid-cholesterol acyltransferase . LCAT (6 diseases found)

LCAT Deficiency (161 Overlapping PMIDs. View on Twease.org )
Lecithin Cholesterol Acyltransferase Deficiency (42 Overlapping PMIDs. View on Twease.org )
Fish-Eye Disease (7 Overlapping PMIDs. View on Twease.org )
Fish Eye Disease (7 Overlapping PMIDs. View on Twease.org )
alpha LCAT Deficiency (6 Overlapping PMIDs. View on Twease.org )
alpha-LCAT Deficiency (6 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 (6 diseases found)

Maroteaux-Lamy Syndrome (21 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (21 Overlapping PMIDs. View on Twease.org )
Morquio Disease (14 Overlapping PMIDs. View on Twease.org )
Multiple Sulfatase Deficiency (14 Overlapping PMIDs. View on Twease.org )
Morquio Syndrome (9 Overlapping PMIDs. View on Twease.org )
Mucopolysaccharidosis IV (8 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)

Lateral Sclerosis (2091 Overlapping PMIDs. View on Twease.org )
Amyotrophic Lateral Sclerosis (2089 Overlapping PMIDs. View on Twease.org )
ALS Amyotrophic Lateral Sclerosis (1046 Overlapping PMIDs. View on Twease.org )
Primary Lateral Sclerosis (39 Overlapping PMIDs. View on Twease.org )
Gehrig's Disease (11 Overlapping PMIDs. View on Twease.org )
Lou Gehrig's Disease (11 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 (6 diseases found)

Mitochondrial Myopathy (85 Overlapping PMIDs. View on Twease.org )
Mitochondrial Disease (47 Overlapping PMIDs. View on Twease.org )
Mitochondrial Encephalomyopathies (32 Overlapping PMIDs. View on Twease.org )
Mitochondrial Myopathies (32 Overlapping PMIDs. View on Twease.org )
Alpers Syndrome (7 Overlapping PMIDs. View on Twease.org )
Alpers' Syndrome (7 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 (6 diseases found)

Spinocerebellar Ataxia-2 (12 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 2 (12 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia-7 (10 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 7 (10 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 3 (8 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia-3 (8 Overlapping PMIDs. View on Twease.org )

+ IPI00306576 - Arylsulfatase B precursor EC 3.1.6.12 ASB N-acetylgalactosamine- 4-sulfatase G4S . ARSB (6 diseases found)

Mucopolysaccharidosis (73 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (34 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (34 Overlapping PMIDs. View on Twease.org )
Multiple Sulfatase Deficiency (23 Overlapping PMIDs. View on Twease.org )
Mucopolysaccharidosis VI (12 Overlapping PMIDs. View on Twease.org )
Morquio Disease (10 Overlapping PMIDs. View on Twease.org )

+ IPI00385462 - Peroxisomal biogenesis factor 3 Peroxin-3 Peroxisomal assembly protein PEX3 . PEX3 (6 diseases found)

Zellweger Syndrome (193 Overlapping PMIDs. View on Twease.org )
Peroxisomal Disorders (111 Overlapping PMIDs. View on Twease.org )
Neonatal Adrenoleukodystrophy (73 Overlapping PMIDs. View on Twease.org )
Refsum Disease (53 Overlapping PMIDs. View on Twease.org )
Peroxisomal Disorder (40 Overlapping PMIDs. View on Twease.org )
Hyperpipecolic Acidemia (5 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 (6 diseases found)

Spinocerebellar Ataxia-2 (12 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 2 (12 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia-7 (10 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 7 (10 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 3 (8 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia-3 (8 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)

Lateral Sclerosis (2091 Overlapping PMIDs. View on Twease.org )
Amyotrophic Lateral Sclerosis (2089 Overlapping PMIDs. View on Twease.org )
ALS Amyotrophic Lateral Sclerosis (1046 Overlapping PMIDs. View on Twease.org )
Primary Lateral Sclerosis (39 Overlapping PMIDs. View on Twease.org )
Gehrig's Disease (11 Overlapping PMIDs. View on Twease.org )
Lou Gehrig's Disease (11 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 (6 diseases found)

Spinocerebellar Ataxia-2 (12 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 2 (12 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia-7 (10 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 7 (10 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia 3 (8 Overlapping PMIDs. View on Twease.org )
Spinocerebellar Ataxia-3 (8 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 (6 diseases found)

Maroteaux-Lamy Syndrome (21 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (21 Overlapping PMIDs. View on Twease.org )
Morquio Disease (14 Overlapping PMIDs. View on Twease.org )
Multiple Sulfatase Deficiency (14 Overlapping PMIDs. View on Twease.org )
Morquio Syndrome (9 Overlapping PMIDs. View on Twease.org )
Mucopolysaccharidosis IV (8 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 (6 diseases found)

Mitochondrial Myopathy (85 Overlapping PMIDs. View on Twease.org )
Mitochondrial Disease (47 Overlapping PMIDs. View on Twease.org )
Mitochondrial Encephalomyopathies (32 Overlapping PMIDs. View on Twease.org )
Mitochondrial Myopathies (32 Overlapping PMIDs. View on Twease.org )
Alpers Syndrome (7 Overlapping PMIDs. View on Twease.org )
Alpers' Syndrome (7 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)

Lateral Sclerosis (2091 Overlapping PMIDs. View on Twease.org )
Amyotrophic Lateral Sclerosis (2089 Overlapping PMIDs. View on Twease.org )
ALS Amyotrophic Lateral Sclerosis (1046 Overlapping PMIDs. View on Twease.org )
Primary Lateral Sclerosis (39 Overlapping PMIDs. View on Twease.org )
Gehrig's Disease (11 Overlapping PMIDs. View on Twease.org )
Lou Gehrig's Disease (11 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)

Lateral Sclerosis (2091 Overlapping PMIDs. View on Twease.org )
Amyotrophic Lateral Sclerosis (2089 Overlapping PMIDs. View on Twease.org )
ALS Amyotrophic Lateral Sclerosis (1046 Overlapping PMIDs. View on Twease.org )
Primary Lateral Sclerosis (39 Overlapping PMIDs. View on Twease.org )
Gehrig's Disease (11 Overlapping PMIDs. View on Twease.org )
Lou Gehrig's Disease (11 Overlapping PMIDs. View on Twease.org )

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

Bardet Biedl Syndrome (437 Overlapping PMIDs. View on Twease.org )
Bardet-Biedl Syndrome (437 Overlapping PMIDs. View on Twease.org )
Laurence-Moon-Bardet-Biedl Syndrome (111 Overlapping PMIDs. View on Twease.org )
Laurence Moon Bardet Biedl Syndrome (111 Overlapping PMIDs. View on Twease.org )
Laurence-Moon Syndrome (10 Overlapping PMIDs. View on Twease.org )
Laurence Moon Syndrome (10 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 (5 diseases found)

Bloom Syndrome (126 Overlapping PMIDs. View on Twease.org )
Werner Syndrome (91 Overlapping PMIDs. View on Twease.org )
Werner's Syndrome (42 Overlapping PMIDs. View on Twease.org )
Rothmund Thomson Syndrome (35 Overlapping PMIDs. View on Twease.org )
Rothmund-Thomson Syndrome (35 Overlapping PMIDs. View on Twease.org )

+ IPI00012989 - Lysosomal alpha-mannosidase precursor EC 3.2.1.24 Mannosidase alpha B Lysosomal acid alpha-mannosidase Laman Mannosidase alpha class 2B member 1 MAN2B1 (5 diseases found)

Mannosidosis (62 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (39 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (39 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )

+ IPI00020058 - Copper-transporting ATPase 2 EC 3.6.3.4 Copper pump 2 Wilson disease-associated protein . ATP7B (5 diseases found)

Wilson Disease (234 Overlapping PMIDs. View on Twease.org )
Wilson's Disease (170 Overlapping PMIDs. View on Twease.org )
Menkes Disease (74 Overlapping PMIDs. View on Twease.org )
Menkes' Disease (74 Overlapping PMIDs. View on Twease.org )
Menkes' Diseases (5 Overlapping PMIDs. View on Twease.org )

+ IPI00027778 - Peroxisomal NADH pyrophosphatase NUDT12 EC 3.6.1.22 Nucleoside diphosphate-linked moiety X motif 12 Nudix motif 12 . (5 diseases found)

X-Linked Adrenoleukodystrophy (41 Overlapping PMIDs. View on Twease.org )
X Linked Adrenoleukodystrophy (41 Overlapping PMIDs. View on Twease.org )
ALD Adrenoleukodystrophy (30 Overlapping PMIDs. View on Twease.org )
Neonatal Adrenoleukodystrophy (12 Overlapping PMIDs. View on Twease.org )
Peroxisomal Disorder (9 Overlapping PMIDs. View on Twease.org )

+ IPI00216164 - Peroxisomal bifunctional enzyme PBE PBFE . EHHADH (5 diseases found)

Peroxisomal Disorders (349 Overlapping PMIDs. View on Twease.org )
Zellweger Syndrome (335 Overlapping PMIDs. View on Twease.org )
Neonatal Adrenoleukodystrophy (133 Overlapping PMIDs. View on Twease.org )
Peroxisomal Disorder (132 Overlapping PMIDs. View on Twease.org )
Hyperpipecolic Acidemia (13 Overlapping PMIDs. View on Twease.org )

+ IPI00216296 - Copper-transporting ATPase 2 EC 3.6.3.4 Copper pump 2 Wilson disease-associated protein . ATP7B (5 diseases found)

Wilson Disease (234 Overlapping PMIDs. View on Twease.org )
Wilson's Disease (170 Overlapping PMIDs. View on Twease.org )
Menkes Disease (74 Overlapping PMIDs. View on Twease.org )
Menkes' Disease (74 Overlapping PMIDs. View on Twease.org )
Menkes' Diseases (5 Overlapping PMIDs. View on Twease.org )

+ IPI00220303 - mannosidase alpha class 2A member 2 MAN2A2 (5 diseases found)

Mannosidosis (49 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (23 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (23 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )

+ IPI00306835 - Fukutin EC 2.-.-.- Fukuyama-type congenital muscular dystrophy protein . FCMD (5 diseases found)

Muscular Dystrophy (4142 Overlapping PMIDs. View on Twease.org )
Muscular Dystrophies (498 Overlapping PMIDs. View on Twease.org )
Congenital Myotonic Dystrophy (76 Overlapping PMIDs. View on Twease.org )
Distal Muscular Dystrophy (28 Overlapping PMIDs. View on Twease.org )
Tibial Muscular Dystrophy (10 Overlapping PMIDs. View on Twease.org )

+ IPI00477763 - Serine threonine-protein kinase MRCK beta EC 2.7.11.1 CDC42-binding protein kinase beta Myotonic dystrophy kinase-related CDC42-binding kinase beta Myotonic dystrophy protein kinase-like beta MRCK beta DMPK-like beta . CDC42BPB (5 diseases found)

Myotonic Dystrophy (281 Overlapping PMIDs. View on Twease.org )
Myotonic Myopathy (10 Overlapping PMIDs. View on Twease.org )
Proximal Myotonic Myopathy (9 Overlapping PMIDs. View on Twease.org )
Myotonic Dystrophies (6 Overlapping PMIDs. View on Twease.org )
PROMM Proximal Myotonic Myopathy (6 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 (5 diseases found)

Bloom Syndrome (126 Overlapping PMIDs. View on Twease.org )
Werner Syndrome (91 Overlapping PMIDs. View on Twease.org )
Werner's Syndrome (42 Overlapping PMIDs. View on Twease.org )
Rothmund Thomson Syndrome (35 Overlapping PMIDs. View on Twease.org )
Rothmund-Thomson Syndrome (35 Overlapping PMIDs. View on Twease.org )

+ IPI00514510 - Annexin A7 Annexin-7 Annexin VII Synexin . ANXA7 (5 diseases found)

Factor VII Deficiency (357 Overlapping PMIDs. View on Twease.org )
Mucopolysaccharidosis VII (64 Overlapping PMIDs. View on Twease.org )
Sly Syndrome (26 Overlapping PMIDs. View on Twease.org )
Sly Disease (15 Overlapping PMIDs. View on Twease.org )
Factor VII Deficiencies (11 Overlapping PMIDs. View on Twease.org )

+ IPI00550263 - Serine threonine-protein kinase MRCK alpha EC 2.7.11.1 CDC42- binding protein kinase alpha Myotonic dystrophy kinase-related CDC42-binding kinase alpha Myotonic dystrophy protein kinase-like alpha MRCK alpha DMPK-like alpha . CDC42BPA (5 diseases found)

Myotonic Dystrophy (278 Overlapping PMIDs. View on Twease.org )
Myotonic Myopathy (10 Overlapping PMIDs. View on Twease.org )
Proximal Myotonic Myopathy (9 Overlapping PMIDs. View on Twease.org )
Myotonic Dystrophies (6 Overlapping PMIDs. View on Twease.org )
PROMM Proximal Myotonic Myopathy (6 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 (5 diseases found)

Zellweger Syndrome (29 Overlapping PMIDs. View on Twease.org )
Peroxisomal Disorders (26 Overlapping PMIDs. View on Twease.org )
Neonatal Adrenoleukodystrophy (13 Overlapping PMIDs. View on Twease.org )
Refsum Disease (12 Overlapping PMIDs. View on Twease.org )
Peroxisomal Disorder (8 Overlapping PMIDs. View on Twease.org )

+ IPI00640468 - Serine threonine-protein kinase MRCK alpha EC 2.7.11.1 CDC42- binding protein kinase alpha Myotonic dystrophy kinase-related CDC42-binding kinase alpha Myotonic dystrophy protein kinase-like alpha MRCK alpha DMPK-like alpha . CDC42BPA (5 diseases found)

Myotonic Dystrophy (278 Overlapping PMIDs. View on Twease.org )
Myotonic Myopathy (10 Overlapping PMIDs. View on Twease.org )
Proximal Myotonic Myopathy (9 Overlapping PMIDs. View on Twease.org )
Myotonic Dystrophies (6 Overlapping PMIDs. View on Twease.org )
PROMM Proximal Myotonic Myopathy (6 Overlapping PMIDs. View on Twease.org )

+ IPI00644131 - Lysosomal alpha-mannosidase precursor EC 3.2.1.24 Mannosidase alpha B Lysosomal acid alpha-mannosidase Laman Mannosidase alpha class 2B member 1 MAN2B1 (5 diseases found)

Mannosidosis (62 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (39 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (39 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidase Deficiency (5 Overlapping PMIDs. View on Twease.org )

+ IPI00645946 - Fukutin EC 2.-.-.- Fukuyama-type congenital muscular dystrophy protein . FCMD (5 diseases found)

Muscular Dystrophy (4142 Overlapping PMIDs. View on Twease.org )
Muscular Dystrophies (498 Overlapping PMIDs. View on Twease.org )
Congenital Myotonic Dystrophy (76 Overlapping PMIDs. View on Twease.org )
Distal Muscular Dystrophy (28 Overlapping PMIDs. View on Twease.org )
Tibial Muscular Dystrophy (10 Overlapping PMIDs. View on Twease.org )

+ IPI00647899 - Annexin A7 Annexin-7 Annexin VII Synexin . ANXA7 (5 diseases found)

Factor VII Deficiency (357 Overlapping PMIDs. View on Twease.org )
Mucopolysaccharidosis VII (64 Overlapping PMIDs. View on Twease.org )
Sly Syndrome (26 Overlapping PMIDs. View on Twease.org )
Sly Disease (15 Overlapping PMIDs. View on Twease.org )
Factor VII Deficiencies (11 Overlapping PMIDs. View on Twease.org )

+ IPI00796526 - Peroxisomal bifunctional enzyme PBE PBFE . EHHADH (5 diseases found)

Peroxisomal Disorders (349 Overlapping PMIDs. View on Twease.org )
Zellweger Syndrome (335 Overlapping PMIDs. View on Twease.org )
Neonatal Adrenoleukodystrophy (133 Overlapping PMIDs. View on Twease.org )
Peroxisomal Disorder (132 Overlapping PMIDs. View on Twease.org )
Hyperpipecolic Acidemia (13 Overlapping PMIDs. View on Twease.org )

+ IPI00843961 - Serine threonine-protein kinase MRCK alpha EC 2.7.11.1 CDC42- binding protein kinase alpha Myotonic dystrophy kinase-related CDC42-binding kinase alpha Myotonic dystrophy protein kinase-like alpha MRCK alpha DMPK-like alpha . CDC42BPA (5 diseases found)

Myotonic Dystrophy (278 Overlapping PMIDs. View on Twease.org )
Myotonic Myopathy (10 Overlapping PMIDs. View on Twease.org )
Proximal Myotonic Myopathy (9 Overlapping PMIDs. View on Twease.org )
Myotonic Dystrophies (6 Overlapping PMIDs. View on Twease.org )
PROMM Proximal Myotonic Myopathy (6 Overlapping PMIDs. View on Twease.org )

+ IPI00021421 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (5 Overlapping PMIDs. View on Twease.org )

+ IPI00156005 - RNA-binding protein Nova-2 Neuro-oncological ventral antigen 2 Astrocytic NOVA1-like RNA-binding protein . NOVA2 (4 diseases found)

Opsoclonus (12 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Opsoclonus-Myoclonus Ataxia (11 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Opsoclonus Myoclonus Ataxia (11 Overlapping PMIDs. View on Twease.org )
Opsoclonus Myoclonus Ataxia (11 Overlapping PMIDs. View on Twease.org )

+ IPI00168435 - Clarin-3 Transmembrane protein 12 Usher syndrome type-3A-like protein 1 . CLRN3 (4 diseases found)

Usher Syndrome (136 Overlapping PMIDs. View on Twease.org )
Retinitis (89 Overlapping PMIDs. View on Twease.org )
Retinitis Pigmentosa (89 Overlapping PMIDs. View on Twease.org )
Usher Syndromes (9 Overlapping PMIDs. View on Twease.org )

+ IPI00216271 - Inositol polyphosphate 5-phosphatase OCRL-1 EC 3.1.3.36 Lowe oculocerebrorenal syndrome protein . OCRL (4 diseases found)

Oculocerebrorenal Syndrome (83 Overlapping PMIDs. View on Twease.org )
Lowe Syndrome (63 Overlapping PMIDs. View on Twease.org )
Lowe Oculocerebrorenal Syndrome (15 Overlapping PMIDs. View on Twease.org )
Renal Fanconi Syndrome (11 Overlapping PMIDs. View on Twease.org )

+ IPI00216441 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (5 Overlapping PMIDs. View on Twease.org )

+ IPI00218493 - Hypoxanthine-guanine phosphoribosyltransferase EC 2.4.2.8 HGPRT HGPRTase . HPRT1 (4 diseases found)

Lesch Nyhan Syndrome (207 Overlapping PMIDs. View on Twease.org )
Lesch-Nyhan Syndrome (207 Overlapping PMIDs. View on Twease.org )
Lesch Nyhan Disease (35 Overlapping PMIDs. View on Twease.org )
Lesch-Nyhan Disease (35 Overlapping PMIDs. View on Twease.org )

+ IPI00293274 - Polycystic kidney and hepatic disease 1 precursor Fibrocystin Polyductin Tigmin . PKHD1 (4 diseases found)

Kidney Disease (2745 Overlapping PMIDs. View on Twease.org )
Polycystic Kidney Disease (2701 Overlapping PMIDs. View on Twease.org )
Polycystic Kidney Diseases (52 Overlapping PMIDs. View on Twease.org )
Polycystic Renal Disease (51 Overlapping PMIDs. View on Twease.org )

+ IPI00298237 - Tripeptidyl-peptidase 1 precursor EC 3.4.14.9 Tripeptidyl-peptidase I TPP-1 TPP-I Tripeptidyl aminopeptidase Lysosomal pepstatin insensitive protease LPIC Cell growth-inhibiting gene 1 protein . TPP1 (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (51 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (51 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (11 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (11 Overlapping PMIDs. View on Twease.org )

+ IPI00306518 - Fanconi anemia group I protein Protein FANCI . FANCI (4 diseases found)

Anemia (1406 Overlapping PMIDs. View on Twease.org )
Fanconi Anemia (834 Overlapping PMIDs. View on Twease.org )
Fanconi's Anemia (429 Overlapping PMIDs. View on Twease.org )
Chromosome Instability Syndromes (5 Overlapping PMIDs. View on Twease.org )

+ IPI00412430 - Cystinosin. CTNS (4 diseases found)

Cystinosis (55 Overlapping PMIDs. View on Twease.org )
Fanconi Syndrome (17 Overlapping PMIDs. View on Twease.org )
Renal Fanconi Syndrome (9 Overlapping PMIDs. View on Twease.org )
Lysosomal Storage Disease (7 Overlapping PMIDs. View on Twease.org )

+ IPI00514424 - Palmitoyl-protein thioesterase 1 precursor EC 3.1.2.22 PPT-1 Palmitoyl-protein hydrolase 1 . PPT1 (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (78 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (78 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (21 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (21 Overlapping PMIDs. View on Twease.org )

+ IPI00552460 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (5 Overlapping PMIDs. View on Twease.org )

+ IPI00554617 - Tripeptidyl-peptidase 1 precursor EC 3.4.14.9 Tripeptidyl-peptidase I TPP-1 TPP-I Tripeptidyl aminopeptidase Lysosomal pepstatin insensitive protease LPIC Cell growth-inhibiting gene 1 protein . TPP1 (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (51 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (51 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid-Lipofuscinoses (11 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinoses (11 Overlapping PMIDs. View on Twease.org )

+ IPI00607579 - Hermansky-Pudlak syndrome 1 protein. HPS1 (4 diseases found)

Hermansky Pudlak Syndrome (343 Overlapping PMIDs. View on Twease.org )
Hermansky-Pudlak Syndrome (343 Overlapping PMIDs. View on Twease.org )
Chediak-Higashi Syndrome (28 Overlapping PMIDs. View on Twease.org )
Chediak Higashi Syndrome (28 Overlapping PMIDs. View on Twease.org )

+ IPI00646292 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (5 Overlapping PMIDs. View on Twease.org )

+ IPI00654792 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (5 Overlapping PMIDs. View on Twease.org )

+ IPI00828019 - Clarin-3 Transmembrane protein 12 Usher syndrome type-3A-like protein 1 . CLRN3 (4 diseases found)

Usher Syndrome (136 Overlapping PMIDs. View on Twease.org )
Retinitis (89 Overlapping PMIDs. View on Twease.org )
Retinitis Pigmentosa (89 Overlapping PMIDs. View on Twease.org )
Usher Syndromes (9 Overlapping PMIDs. View on Twease.org )

+ IPI00844329 - Hypoxanthine-guanine phosphoribosyltransferase EC 2.4.2.8 HGPRT HGPRTase . HPRT1 (4 diseases found)

Lesch Nyhan Syndrome (207 Overlapping PMIDs. View on Twease.org )
Lesch-Nyhan Syndrome (207 Overlapping PMIDs. View on Twease.org )
Lesch Nyhan Disease (35 Overlapping PMIDs. View on Twease.org )
Lesch-Nyhan Disease (35 Overlapping PMIDs. View on Twease.org )

+ IPI00852823 - Fanconi anemia group I protein Protein FANCI . FANCI (4 diseases found)

Anemia (1406 Overlapping PMIDs. View on Twease.org )
Fanconi Anemia (834 Overlapping PMIDs. View on Twease.org )
Fanconi's Anemia (429 Overlapping PMIDs. View on Twease.org )
Chromosome Instability Syndromes (5 Overlapping PMIDs. View on Twease.org )

+ IPI00853549 - Lysosomal thioesterase PPT2 precursor EC 3.1.2.- PPT-2 S- thioesterase G14 . (4 diseases found)

Neuronal Ceroid-Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
Neuronal Ceroid Lipofuscinosis (46 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (5 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (5 Overlapping PMIDs. View on Twease.org )

+ IPI00000105 - Major vault protein MVP Lung resistance-related protein . MVP (3 diseases found)

Mitral Valve Prolapse (302 Overlapping PMIDs. View on Twease.org )
Floppy Mitral Valve (7 Overlapping PMIDs. View on Twease.org )
Floppy Mitral Valves (6 Overlapping PMIDs. View on Twease.org )

+ IPI00000949 - Mu-crystallin homolog NADP-regulated thyroid-hormone-binding protein . CRYM (3 diseases found)

Thyroid Hormone Resistance (71 Overlapping PMIDs. View on Twease.org )
Generalized Thyroid Hormone Resistance (17 Overlapping PMIDs. View on Twease.org )
Thyroid Hormone Resistance Syndrome (12 Overlapping PMIDs. View on Twease.org )

+ IPI00001735 - Nuclear receptor corepressor 2 N-CoR2 Silencing mediator of retinoic acid and thyroid hormone receptor SMRT SMRTe Thyroid- retinoic-acid-receptor-associated corepressor T3 receptor- associating factor TRAC CTG repeat protein 26 SMAP270 . NCOR2 (3 diseases found)

Thyroid Hormone Resistance (43 Overlapping PMIDs. View on Twease.org )
Thyroid Hormone Resistance Syndrome (11 Overlapping PMIDs. View on Twease.org )
Generalized Thyroid Hormone Resistance (10 Overlapping PMIDs. View on Twease.org )

+ IPI00002707 - Spastin. SPAST (3 diseases found)

Paraplegia (96 Overlapping PMIDs. View on Twease.org )
Spastic Paraplegia (95 Overlapping PMIDs. View on Twease.org )
Spastic Paraplegias (13 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 (3 diseases found)

Mannosidosis (30 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (16 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (16 Overlapping PMIDs. View on Twease.org )

+ IPI00006579 - Cytochrome c oxidase subunit 4 isoform 1 mitochondrial precursor EC 1.9.3.1 Cytochrome c oxidase subunit IV isoform 1 COX IV-1 Cytochrome c oxidase polypeptide IV . COX4I1 (3 diseases found)

Cytochrome-c Oxidase Deficiency (128 Overlapping PMIDs. View on Twease.org )
Cytochrome c Oxidase Deficiency (128 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00008405 - Arylsulfatase F precursor EC 3.1.6.- ASF . ARSF (3 diseases found)

Multiple Sulfatase Deficiency (7 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )

+ IPI00008556 - Coagulation factor XI precursor EC 3.4.21.27 Plasma thromboplastin antecedent PTA FXI . F11 (3 diseases found)

Factor XI Deficiency (175 Overlapping PMIDs. View on Twease.org )
PTA Deficiency (9 Overlapping PMIDs. View on Twease.org )
Hemophilia C (5 Overlapping PMIDs. View on Twease.org )

+ IPI00008570 - KH domain-containing RNA-binding signal transduction-associated protein 3 Sam68-like mammalian protein 2 SLM-2 Sam68-like phosphotyrosine protein RNA-binding protein T-Star . KHDRBS3 (3 diseases found)

Paraneoplastic Opsoclonus-Myoclonus Ataxia (6 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Opsoclonus Myoclonus Ataxia (6 Overlapping PMIDs. View on Twease.org )
Opsoclonus Myoclonus Ataxia (6 Overlapping PMIDs. View on Twease.org )

+ IPI00015972 - Cytochrome c oxidase polypeptide VIc precursor EC 1.9.3.1 . COX6C (3 diseases found)

Cytochrome-c Oxidase Deficiency (115 Overlapping PMIDs. View on Twease.org )
Cytochrome c Oxidase Deficiency (115 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (5 Overlapping PMIDs. View on Twease.org )

+ IPI00016812 - Williams-Beuren syndrome chromosome region 14 protein WS basic-helix- loop-helix leucine zipper protein WS-bHLH Mlx interactor MLX- interacting protein-like . MLXIPL (3 diseases found)

Williams Syndrome (362 Overlapping PMIDs. View on Twease.org )
Williams-Beuren Syndrome (221 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (221 Overlapping PMIDs. View on Twease.org )

+ IPI00020005 - Arylsulfatase E precursor EC 3.1.6.- ASE . ARSE (3 diseases found)

Multiple Sulfatase Deficiency (5 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )

+ IPI00021891 - Fibrinogen gamma chain precursor. FGG (3 diseases found)

gamma-Chain Disease (9 Overlapping PMIDs. View on Twease.org )
gamma Chain Disease (9 Overlapping PMIDs. View on Twease.org )
Fibrinogen Deficiencies (8 Overlapping PMIDs. View on Twease.org )

+ IPI00022991 - Thyroid hormone receptor alpha C-erbA-alpha c-erbA-1 EAR-7 EAR7 . THRA (3 diseases found)

Thyroid Hormone Resistance (38 Overlapping PMIDs. View on Twease.org )
Generalized Thyroid Hormone Resistance (17 Overlapping PMIDs. View on Twease.org )
Thyroid Hormone Resistance Syndrome (8 Overlapping PMIDs. View on Twease.org )

+ IPI00025086 - Cytochrome c oxidase subunit 5A mitochondrial precursor EC 1.9.3.1 Cytochrome c oxidase polypeptide Va . COX5A (3 diseases found)

Cytochrome-c Oxidase Deficiency (165 Overlapping PMIDs. View on Twease.org )
Cytochrome c Oxidase Deficiency (165 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (5 Overlapping PMIDs. View on Twease.org )

+ IPI00025753 - Desmoglein-1 precursor Desmosomal glycoprotein 1 DG1 DGI Pemphigus foliaceus antigen . DSG1 (3 diseases found)

Pemphigus (2126 Overlapping PMIDs. View on Twease.org )
Pemphigus Vulgaris (1061 Overlapping PMIDs. View on Twease.org )
Pemphigus Foliaceus (834 Overlapping PMIDs. View on Twease.org )

+ IPI00027409 - Myeloblastin precursor EC 3.4.21.76 Leukocyte proteinase 3 PR-3 PR3 AGP7 Wegener autoantigen P29 C-ANCA antigen Neutrophil proteinase 4 NP-4 . PRTN3 (3 diseases found)

Wegener's Granulomatosis (744 Overlapping PMIDs. View on Twease.org )
Vasculitides (228 Overlapping PMIDs. View on Twease.org )
Wegener Granulomatosis (66 Overlapping PMIDs. View on Twease.org )

+ IPI00031547 - Desmoglein-3 precursor 130 kDa pemphigus vulgaris antigen PVA . DSG3 (3 diseases found)

Pemphigus (2699 Overlapping PMIDs. View on Twease.org )
Pemphigus Vulgaris (2040 Overlapping PMIDs. View on Twease.org )
Pemphigus Foliaceus (524 Overlapping PMIDs. View on Twease.org )

+ IPI00032179 - Antithrombin-III precursor ATIII . SERPINC1 (3 diseases found)

Antithrombin III Deficiency (484 Overlapping PMIDs. View on Twease.org )
Antithrombin III Deficiencies (25 Overlapping PMIDs. View on Twease.org )
Antithrombin 3 Deficiency (8 Overlapping PMIDs. View on Twease.org )

+ IPI00034309 - Inversin Inversion of embryo turning homolog Nephrocystin-2 . INVS (3 diseases found)

Uterine Inversion (239 Overlapping PMIDs. View on Twease.org )
Inversion of Uterus (23 Overlapping PMIDs. View on Twease.org )
Uterus Inversion (8 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 (3 diseases found)

Epidermolysis Bullosa Acquisita (19 Overlapping PMIDs. View on Twease.org )
Herpes Gestationis (11 Overlapping PMIDs. View on Twease.org )
Pemphigoid Gestationis (9 Overlapping PMIDs. View on Twease.org )

+ IPI00099386 - Tubulointerstitial nephritis antigen TIN-Ag . TINAG (3 diseases found)

Nephritis (9503 Overlapping PMIDs. View on Twease.org )
Hemorrhagic Nephroso Nephritis (54 Overlapping PMIDs. View on Twease.org )
Hemorrhagic Nephroso-Nephritis (54 Overlapping PMIDs. View on Twease.org )

+ IPI00099981 - Polycystin-1 precursor Autosomal dominant polycystic kidney disease protein 1 . PKD1 (3 diseases found)

Kidney Disease (2774 Overlapping PMIDs. View on Twease.org )
Polycystic Kidney Disease (2717 Overlapping PMIDs. View on Twease.org )
Polycystic Kidney Diseases (51 Overlapping PMIDs. View on Twease.org )

+ IPI00152827 - WAS protein homology region 2 domain containing 1 WHDC1 (3 diseases found)

Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott-Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )

+ IPI00168179 - Pericentriolar material 1 protein PCM-1 hPCM-1 . PCM1 (3 diseases found)

Protein-Calorie Malnutrition (162 Overlapping PMIDs. View on Twease.org )
Protein Calorie Malnutrition (162 Overlapping PMIDs. View on Twease.org )
Paracoccidioidomycosis (94 Overlapping PMIDs. View on Twease.org )

+ IPI00182467 - Williams-Beuren syndrome chromosome region 14 protein WS basic-helix- loop-helix leucine zipper protein WS-bHLH Mlx interactor MLX- interacting protein-like . MLXIPL (3 diseases found)

Williams Syndrome (362 Overlapping PMIDs. View on Twease.org )
Williams-Beuren Syndrome (221 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (221 Overlapping PMIDs. View on Twease.org )

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

von Willebrand's Disease (832 Overlapping PMIDs. View on Twease.org )
von Willebrand Disease (612 Overlapping PMIDs. View on Twease.org )
von Willebrands Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00215986 - Williams-Beuren syndrome chromosome region 14 protein WS basic-helix- loop-helix leucine zipper protein WS-bHLH Mlx interactor MLX- interacting protein-like . MLXIPL (3 diseases found)

Williams Syndrome (362 Overlapping PMIDs. View on Twease.org )
Williams-Beuren Syndrome (221 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (221 Overlapping PMIDs. View on Twease.org )

+ IPI00216085 - Cytochrome c oxidase subunit VIb isoform 1 EC 1.9.3.1 COX VIb-1 . COX6B1 (3 diseases found)

Cytochrome-c Oxidase Deficiency (140 Overlapping PMIDs. View on Twease.org )
Cytochrome c Oxidase Deficiency (140 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00216588 - Coagulation factor XI precursor EC 3.4.21.27 Plasma thromboplastin antecedent PTA FXI . F11 (3 diseases found)

Factor XI Deficiency (175 Overlapping PMIDs. View on Twease.org )
PTA Deficiency (9 Overlapping PMIDs. View on Twease.org )
Hemophilia C (5 Overlapping PMIDs. View on Twease.org )

+ IPI00218130 - Glycogen phosphorylase muscle form EC 2.4.1.1 Myophosphorylase . PYGM (3 diseases found)

McArdle's Disease (69 Overlapping PMIDs. View on Twease.org )
McArdle Disease (30 Overlapping PMIDs. View on Twease.org )
Muscle Phosphorylase Deficiency (10 Overlapping PMIDs. View on Twease.org )

+ IPI00219099 - Thyroid hormone receptor alpha C-erbA-alpha c-erbA-1 EAR-7 EAR7 . THRA (3 diseases found)

Thyroid Hormone Resistance (38 Overlapping PMIDs. View on Twease.org )
Generalized Thyroid Hormone Resistance (17 Overlapping PMIDs. View on Twease.org )
Thyroid Hormone Resistance Syndrome (8 Overlapping PMIDs. View on Twease.org )

+ IPI00219100 - Thyroid hormone receptor alpha C-erbA-alpha c-erbA-1 EAR-7 EAR7 . THRA (3 diseases found)

Thyroid Hormone Resistance (38 Overlapping PMIDs. View on Twease.org )
Generalized Thyroid Hormone Resistance (17 Overlapping PMIDs. View on Twease.org )
Thyroid Hormone Resistance Syndrome (8 Overlapping PMIDs. View on Twease.org )

+ IPI00219555 - Nuclear receptor corepressor 2 N-CoR2 Silencing mediator of retinoic acid and thyroid hormone receptor SMRT SMRTe Thyroid- retinoic-acid-receptor-associated corepressor T3 receptor- associating factor TRAC CTG repeat protein 26 SMAP270 . NCOR2 (3 diseases found)

Thyroid Hormone Resistance (43 Overlapping PMIDs. View on Twease.org )
Thyroid Hormone Resistance Syndrome (11 Overlapping PMIDs. View on Twease.org )
Generalized Thyroid Hormone Resistance (10 Overlapping PMIDs. View on Twease.org )

+ IPI00219713 - Fibrinogen gamma chain precursor. FGG (3 diseases found)

gamma-Chain Disease (9 Overlapping PMIDs. View on Twease.org )
gamma Chain Disease (9 Overlapping PMIDs. View on Twease.org )
Fibrinogen Deficiencies (8 Overlapping PMIDs. View on Twease.org )

+ IPI00219816 - Spastin. SPAST (3 diseases found)

Paraplegia (96 Overlapping PMIDs. View on Twease.org )
Spastic Paraplegia (95 Overlapping PMIDs. View on Twease.org )
Spastic Paraplegias (13 Overlapping PMIDs. View on Twease.org )

+ IPI00289986 - Serine-protein kinase ATM EC 2.7.11.1 Ataxia telangiectasia mutated A-T mutated . (3 diseases found)

Telangiectasia (1300 Overlapping PMIDs. View on Twease.org )
Ataxia Telangiectasia (1299 Overlapping PMIDs. View on Twease.org )
Ataxia-Telangiectasia (1299 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 (3 diseases found)

Kidney Disease (2108 Overlapping PMIDs. View on Twease.org )
Polycystic Kidney Disease (2075 Overlapping PMIDs. View on Twease.org )
Polycystic Kidney Diseases (39 Overlapping PMIDs. View on Twease.org )

+ IPI00328488 - Epididymis-specific alpha-mannosidase precursor EC 3.2.1.24 Mannosidase alpha class 2B member 2 . MAN2B2 (3 diseases found)

Mannosidosis (28 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (16 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (16 Overlapping PMIDs. View on Twease.org )

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

Multiple Sulfatase Deficiency (27 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (7 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (7 Overlapping PMIDs. View on Twease.org )

+ IPI00414909 - Alpha-N-acetylgalactosaminidase precursor EC 3.2.1.49 Alpha- galactosidase B . NAGA (3 diseases found)

Neuroaxonal Dystrophy (13 Overlapping PMIDs. View on Twease.org )
Angiokeratoma Corporis Diffusum (9 Overlapping PMIDs. View on Twease.org )
Infantile Neuroaxonal Dystrophy (6 Overlapping PMIDs. View on Twease.org )

+ IPI00478910 - Inversin Inversion of embryo turning homolog Nephrocystin-2 . INVS (3 diseases found)

Uterine Inversion (239 Overlapping PMIDs. View on Twease.org )
Inversion of Uterus (23 Overlapping PMIDs. View on Twease.org )
Uterus Inversion (8 Overlapping PMIDs. View on Twease.org )

+ IPI00513720 - Tubulointerstitial nephritis antigen TIN-Ag . TINAG (3 diseases found)

Nephritis (9503 Overlapping PMIDs. View on Twease.org )
Hemorrhagic Nephroso Nephritis (54 Overlapping PMIDs. View on Twease.org )
Hemorrhagic Nephroso-Nephritis (54 Overlapping PMIDs. View on Twease.org )

+ IPI00514198 - Arylsulfatase E precursor EC 3.1.6.- ASE . ARSE (3 diseases found)

Multiple Sulfatase Deficiency (5 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )

+ IPI00552730 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (3 diseases found)

Charcot-Marie-Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Charcot Marie Tooth Disease (7 Overlapping PMIDs. View on Twease.org )

+ IPI00553177 - Alpha-1-antitrypsin precursor Alpha-1 protease inhibitor Alpha-1- antiproteinase . SERPINA1 (3 diseases found)

alpha 1 Antitrypsin Deficiency (1100 Overlapping PMIDs. View on Twease.org )
alpha 1-Antitrypsin Deficiency (1100 Overlapping PMIDs. View on Twease.org )
alpha 1-Antitrypsin Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00556050 - Mu-crystallin homolog NADP-regulated thyroid-hormone-binding protein . CRYM (3 diseases found)

Thyroid Hormone Resistance (71 Overlapping PMIDs. View on Twease.org )
Generalized Thyroid Hormone Resistance (17 Overlapping PMIDs. View on Twease.org )
Thyroid Hormone Resistance Syndrome (12 Overlapping PMIDs. View on Twease.org )

+ IPI00604401 - Epididymis-specific alpha-mannosidase precursor EC 3.2.1.24 Mannosidase alpha class 2B member 2 . MAN2B2 (3 diseases found)

Mannosidosis (28 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (16 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (16 Overlapping PMIDs. View on Twease.org )

+ IPI00640709 - Arylsulfatase E precursor EC 3.1.6.- ASE . ARSE (3 diseases found)

Multiple Sulfatase Deficiency (5 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (5 Overlapping PMIDs. View on Twease.org )

+ IPI00642329 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (3 diseases found)

Charcot-Marie-Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Charcot Marie Tooth Disease (7 Overlapping PMIDs. View on Twease.org )

+ IPI00645361 - Cytochrome c oxidase subunit 4 isoform 1 mitochondrial precursor EC 1.9.3.1 Cytochrome c oxidase subunit IV isoform 1 COX IV-1 Cytochrome c oxidase polypeptide IV . COX4I1 (3 diseases found)

Cytochrome-c Oxidase Deficiency (128 Overlapping PMIDs. View on Twease.org )
Cytochrome c Oxidase Deficiency (128 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00738582 - WAS protein homology region 2 domain containing 1 WHDC1 (3 diseases found)

Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott-Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )

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

Multiple Sulfatase Deficiency (27 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (7 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (7 Overlapping PMIDs. View on Twease.org )

+ IPI00788786 - von Willebrand factor precursor vWF . VWF (3 diseases found)

von Willebrand's Disease (1641 Overlapping PMIDs. View on Twease.org )
von Willebrand Disease (1033 Overlapping PMIDs. View on Twease.org )
von Willebrands Disease (9 Overlapping PMIDs. View on Twease.org )

+ IPI00789024 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (3 diseases found)

Charcot-Marie-Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Charcot Marie Tooth Disease (7 Overlapping PMIDs. View on Twease.org )

+ IPI00789036 - KH domain-containing RNA-binding signal transduction-associated protein 3 Sam68-like mammalian protein 2 SLM-2 Sam68-like phosphotyrosine protein RNA-binding protein T-Star . KHDRBS3 (3 diseases found)

Paraneoplastic Opsoclonus-Myoclonus Ataxia (6 Overlapping PMIDs. View on Twease.org )
Paraneoplastic Opsoclonus Myoclonus Ataxia (6 Overlapping PMIDs. View on Twease.org )
Opsoclonus Myoclonus Ataxia (6 Overlapping PMIDs. View on Twease.org )

+ IPI00790784 - Alpha-1-antitrypsin precursor Alpha-1 protease inhibitor Alpha-1- antiproteinase . SERPINA1 (3 diseases found)

alpha 1 Antitrypsin Deficiency (1100 Overlapping PMIDs. View on Twease.org )
alpha 1-Antitrypsin Deficiency (1100 Overlapping PMIDs. View on Twease.org )
alpha 1-Antitrypsin Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00791338 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (3 diseases found)

Charcot-Marie-Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Charcot Marie Tooth Disease (7 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 (3 diseases found)

Mannosidosis (30 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (16 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (16 Overlapping PMIDs. View on Twease.org )

+ IPI00792949 - Uncharacterized protein C14orf135 precursor Hepatitis C virus F protein-binding protein 2 HCV F protein-binding protein 2 . (3 diseases found)

Hepatitis (11275 Overlapping PMIDs. View on Twease.org )
Hepatitis C (11085 Overlapping PMIDs. View on Twease.org )
PT-NANBH (5 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 (3 diseases found)

Mannosidosis (30 Overlapping PMIDs. View on Twease.org )
alpha-Mannosidosis (16 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (16 Overlapping PMIDs. View on Twease.org )

+ IPI00797568 - WAS protein homology region 2 domain containing 1 WHDC1 (3 diseases found)

Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott-Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )

+ IPI00797738 - Cytochrome c oxidase subunit VIb isoform 1 EC 1.9.3.1 COX VIb-1 . COX6B1 (3 diseases found)

Cytochrome-c Oxidase Deficiency (140 Overlapping PMIDs. View on Twease.org )
Cytochrome c Oxidase Deficiency (140 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00816168 - WAS protein homology region 2 domain containing 1 WHDC1 (3 diseases found)

Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott-Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )
Wiskott Aldrich Syndrome (12 Overlapping PMIDs. View on Twease.org )

+ IPI00844156 - Antithrombin-III precursor ATIII . SERPINC1 (3 diseases found)

Antithrombin III Deficiency (484 Overlapping PMIDs. View on Twease.org )
Antithrombin III Deficiencies (25 Overlapping PMIDs. View on Twease.org )
Antithrombin 3 Deficiency (8 Overlapping PMIDs. View on Twease.org )

+ IPI00847259 - Mitofusin-2 EC 3.6.5.- Transmembrane GTPase MFN2 . MFN2 (3 diseases found)

Charcot-Marie-Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Tooth Disease (7 Overlapping PMIDs. View on Twease.org )
Charcot Marie Tooth Disease (7 Overlapping PMIDs. View on Twease.org )

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

Multiple Sulfatase Deficiency (27 Overlapping PMIDs. View on Twease.org )
Maroteaux-Lamy Syndrome (7 Overlapping PMIDs. View on Twease.org )
Maroteaux Lamy Syndrome (7 Overlapping PMIDs. View on Twease.org )

+ IPI00004524 - Grancalcin. GCA (2 diseases found)

Arteritis (595 Overlapping PMIDs. View on Twease.org )
Polymyalgia Rheumatica (226 Overlapping PMIDs. View on Twease.org )

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

Arrhythmogenic Right Ventricular Cardiomyopathy (18 Overlapping PMIDs. View on Twease.org )
Arrhythmogenic Right Ventricular Dysplasia (10 Overlapping PMIDs. View on Twease.org )

+ IPI00006165 - N-acetylneuraminate lyase EC 4.1.3.3 NALase N-acetylneuraminic acid aldolase N-acetylneuraminate pyruvate-lyase Sialic acid lyase Sialate lyase Sialate-pyruvate lyase Sialic acid aldolase . NPL (2 diseases found)

Salla Disease (16 Overlapping PMIDs. View on Twease.org )
Sialuria (16 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 (2 diseases found)

Sporadic Cerebral Amyloid Angiopathy (13 Overlapping PMIDs. View on Twease.org )
Cerebral Amyloid Angiopathies (8 Overlapping PMIDs. View on Twease.org )

+ IPI00006662 - Apolipoprotein D precursor Apo-D ApoD . APOD (2 diseases found)

Apolipoprotein C II Deficiency (21 Overlapping PMIDs. View on Twease.org )
Apolipoprotein C-II Deficiency (21 Overlapping PMIDs. View on Twease.org )

+ IPI00008692 - Keratin type I cuticular Ha6 Hair keratin type I Ha6 . KRT36 (2 diseases found)

Epidermolysis Bullosa Simplex (105 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (19 Overlapping PMIDs. View on Twease.org )

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

Hermansky Pudlak Syndrome (292 Overlapping PMIDs. View on Twease.org )
Hermansky-Pudlak Syndrome (292 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)

Multiple Sulfatase Deficiency (10 Overlapping PMIDs. View on Twease.org )
Morquio Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00012585 - Beta-hexosaminidase beta chain precursor EC 3.2.1.52 N-acetyl-beta- glucosaminidase Beta-N-acetylhexosaminidase Hexosaminidase B Cervical cancer proto-oncogene 7 HCC-7 HEXB (2 diseases found)

Sandhoff Disease (30 Overlapping PMIDs. View on Twease.org )
Sandhoff's Disease (6 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 (2 diseases found)

Stiff-Man Syndrome (5 Overlapping PMIDs. View on Twease.org )
Stiff Man Syndrome (5 Overlapping PMIDs. View on Twease.org )

+ IPI00012837 - Kinesin heavy chain Ubiquitous kinesin heavy chain UKHC . KIF5B (2 diseases found)

Heavy Chain Disease (328 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (58 Overlapping PMIDs. View on Twease.org )

+ IPI00015505 - Hermansky-Pudlak syndrome 6 protein Ruby-eye protein homolog Ru . HPS6 (2 diseases found)

Hermansky Pudlak Syndrome (342 Overlapping PMIDs. View on Twease.org )
Hermansky-Pudlak Syndrome (342 Overlapping PMIDs. View on Twease.org )

+ IPI00017337 - Annexin A13 Annexin-13 Annexin XIII Annexin intestine-specific ISA . ANXA13 (2 diseases found)

Factor XIII Deficiency (212 Overlapping PMIDs. View on Twease.org )
Factor XIII Deficiencies (7 Overlapping PMIDs. View on Twease.org )

+ IPI00019581 - Coagulation factor XII precursor EC 3.4.21.38 Hageman factor HAF . F12 (2 diseases found)

Factor XII Deficiency (96 Overlapping PMIDs. View on Twease.org )
Hageman Trait (34 Overlapping PMIDs. View on Twease.org )

+ IPI00019988 - N-sulphoglucosamine sulphohydrolase precursor EC 3.10.1.1 Sulfoglucosamine sulfamidase Sulphamidase . SGSH (2 diseases found)

Mucopolysaccharidosis (31 Overlapping PMIDs. View on Twease.org )
Sanfilippo Syndrome (13 Overlapping PMIDs. View on Twease.org )

+ IPI00021854 - Apolipoprotein A-II precursor Apo-AII ApoA-II . APOA2 (2 diseases found)

Apolipoprotein C II Deficiency (28 Overlapping PMIDs. View on Twease.org )
Apolipoprotein C-II Deficiency (28 Overlapping PMIDs. View on Twease.org )

+ IPI00021855 - Apolipoprotein C-I precursor Apo-CI ApoC-I . APOC1 (2 diseases found)

Apolipoprotein C II Deficiency (20 Overlapping PMIDs. View on Twease.org )
Apolipoprotein C-II Deficiency (20 Overlapping PMIDs. View on Twease.org )

+ IPI00021856 - Apolipoprotein C-II precursor Apo-CII ApoC-II . APOC2 (2 diseases found)

Apolipoprotein C II Deficiency (30 Overlapping PMIDs. View on Twease.org )
Apolipoprotein C-II Deficiency (30 Overlapping PMIDs. View on Twease.org )

+ IPI00021857 - Apolipoprotein C-III precursor Apo-CIII ApoC-III . APOC3 (2 diseases found)

Apolipoprotein C II Deficiency (28 Overlapping PMIDs. View on Twease.org )
Apolipoprotein C-II Deficiency (28 Overlapping PMIDs. View on Twease.org )

+ IPI00022418 - Fibronectin precursor FN Cold-insoluble globulin CIG . FN1 (2 diseases found)

Cold Panniculitis (13 Overlapping PMIDs. View on Twease.org )
Cold Sores (6 Overlapping PMIDs. View on Twease.org )

+ IPI00022974 - Prolactin-inducible protein precursor Prolactin-induced protein Secretory actin-binding protein SABP Gross cystic disease fluid protein 15 GCDFP-15 gp17 . PIP (2 diseases found)

Cystic Breast Disease (22 Overlapping PMIDs. View on Twease.org )
Breast Cystic Disease (7 Overlapping PMIDs. View on Twease.org )

+ IPI00024067 - Clathrin heavy chain 1 CLH-17 . CLTC (2 diseases found)

Heavy Chain Disease (185 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (38 Overlapping PMIDs. View on Twease.org )

+ IPI00027745 - Beta-glucuronidase precursor EC 3.2.1.31 Beta-G1 . GUSB (2 diseases found)

Mucopolysaccharidosis (47 Overlapping PMIDs. View on Twease.org )
Mucopolysaccharidosis VII (18 Overlapping PMIDs. View on Twease.org )

+ IPI00027847 - Lipoprotein lipase precursor EC 3.1.1.34 LPL . LPL (2 diseases found)

Familial Lipoprotein Lipase Deficiency (28 Overlapping PMIDs. View on Twease.org )
Familial Hyperchylomicronemia (13 Overlapping PMIDs. View on Twease.org )

+ IPI00029817 - Sialidase-1 precursor EC 3.2.1.18 Lysosomal sialidase N-acetyl- alpha-neuraminidase 1 Acetylneuraminyl hydrolase G9 sialidase . NEU1 (2 diseases found)

Sialidosis (38 Overlapping PMIDs. View on Twease.org )
Mucolipidosis I (8 Overlapping PMIDs. View on Twease.org )

+ IPI00030351 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00031708 - Fumarylacetoacetase EC 3.7.1.2 Fumarylacetoacetate hydrolase Beta-diketonase FAA . FAH (2 diseases found)

Tyrosinemia (80 Overlapping PMIDs. View on Twease.org )
Hereditary Tyrosinemia (67 Overlapping PMIDs. View on Twease.org )

+ IPI00031772 - Normal mucosa of esophagus-specific gene 1 protein Protein FOAP-11 . C15orf48 (2 diseases found)

Barrett's Esophagus (35 Overlapping PMIDs. View on Twease.org )
Barrett Esophagus (7 Overlapping PMIDs. View on Twease.org )

+ IPI00032447 - Linker for activation of T-cells family member 2 Non-T-cell activation linker Linker for activation of B-cells Membrane- associated adapter molecule Williams-Beuren syndrome chromosome region 15 protein . LAT2 (2 diseases found)

Williams-Beuren Syndrome (36 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (36 Overlapping PMIDs. View on Twease.org )

+ IPI00032513 - Keratin type I cuticular Ha1 Hair keratin type I Ha1 Keratin-31 . KRT31 (2 diseases found)

Epidermolysis Bullosa Simplex (82 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (14 Overlapping PMIDs. View on Twease.org )

+ IPI00032892 - Geranylgeranyl pyrophosphate synthetase GGPP synthetase GGPPSase Geranylgeranyl diphosphate synthase . GGPS1 (2 diseases found)

Calcium Pyrophosphate Dihydrate Deposition (102 Overlapping PMIDs. View on Twease.org )
Holocarboxylase Synthetase Deficiency (44 Overlapping PMIDs. View on Twease.org )

+ IPI00069817 - Bromodomain adjacent to zinc finger domain protein 1B Williams-Beuren syndrome chromosome region 9 protein Williams syndrome transcription factor hWALP2 . BAZ1B (2 diseases found)

Williams-Beuren Syndrome (213 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (213 Overlapping PMIDs. View on Twease.org )

+ IPI00099239 - SLAM family member 5 precursor Signaling lymphocytic activation molecule 5 Leukocyte differentiation antigen CD84 CD84 antigen Cell surface antigen MAX.3 Hly9-beta . CD84 (2 diseases found)

X Linked Lymphoproliferative Syndrome (17 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (17 Overlapping PMIDs. View on Twease.org )

+ IPI00101405 - Farnesyl pyrophosphate synthetase FPP synthetase FPS Farnesyl diphosphate synthetase . FDPS (2 diseases found)

Calcium Pyrophosphate Dihydrate Deposition (105 Overlapping PMIDs. View on Twease.org )
Holocarboxylase Synthetase Deficiency (48 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 (2 diseases found)

Vitamin B12 Deficiency (964 Overlapping PMIDs. View on Twease.org )
Vitamin B12 Deficiencies (36 Overlapping PMIDs. View on Twease.org )

+ IPI00165934 - G-protein coupled receptor 98 precursor Monogenic audiogenic seizure susceptibility protein 1 homolog Very large G-protein coupled receptor 1 Usher syndrome type-2C protein . GPR98 (2 diseases found)

Usher Syndrome (105 Overlapping PMIDs. View on Twease.org )
Usher Syndromes (5 Overlapping PMIDs. View on Twease.org )

+ IPI00167976 - Parkinson disease 7 domain containing 1 PDDC1 (2 diseases found)

Disease (17 Overlapping PMIDs. View on Twease.org )
Parkinson's Disease (15 Overlapping PMIDs. View on Twease.org )

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

Multiple Sulfatase Deficiency (28 Overlapping PMIDs. View on Twease.org )
Morquio Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00173359 - Uveal autoantigen with coiled-coil domains and ankyrin repeats. UACA (2 diseases found)

Uveal Disease (16 Overlapping PMIDs. View on Twease.org )
Uveal Diseases (8 Overlapping PMIDs. View on Twease.org )

+ IPI00173549 - Synaptopodin-2 Myopodin Genethonin 2 . SYNPO2 (2 diseases found)

HIV Associated Nephropathy (9 Overlapping PMIDs. View on Twease.org )
HIV-Associated Nephropathy (9 Overlapping PMIDs. View on Twease.org )

+ IPI00176619 - Protein MEMO1 Mediator of ErbB2-driven cell motility 1 Protein memo C21orf19-like protein Hepatitis C virus NS5A-transactivated protein 7 HCV NS5A-transactivated protein 7 . MEMO1P (2 diseases found)

Hepatitis (7560 Overlapping PMIDs. View on Twease.org )
Hepatitis C (7469 Overlapping PMIDs. View on Twease.org )

+ IPI00178743 - Alstrom syndrome protein 1. ALMS1 (2 diseases found)

Bardet Biedl Syndrome (6 Overlapping PMIDs. View on Twease.org )
Bardet-Biedl Syndrome (6 Overlapping PMIDs. View on Twease.org )

+ IPI00180408 - Myosin-15 Myosin heavy chain 15 . MYH15 (2 diseases found)

Heavy Chain Disease (287 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (49 Overlapping PMIDs. View on Twease.org )

+ IPI00182933 - Cytochrome b5. CYB5A (2 diseases found)

Cytochrome Oxidase Deficiency (52 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00216695 - Bromodomain adjacent to zinc finger domain protein 1B Williams-Beuren syndrome chromosome region 9 protein Williams syndrome transcription factor hWALP2 . BAZ1B (2 diseases found)

Williams-Beuren Syndrome (213 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (213 Overlapping PMIDs. View on Twease.org )

+ IPI00218413 - Biotinidase precursor EC 3.5.1.12 . BTD (2 diseases found)

Biotinidase Deficiency (42 Overlapping PMIDs. View on Twease.org )
Multiple Carboxylase Deficiency (8 Overlapping PMIDs. View on Twease.org )

+ IPI00218729 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

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

Hermansky Pudlak Syndrome (292 Overlapping PMIDs. View on Twease.org )
Hermansky-Pudlak Syndrome (292 Overlapping PMIDs. View on Twease.org )

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

Arrhythmogenic Right Ventricular Cardiomyopathy (18 Overlapping PMIDs. View on Twease.org )
Arrhythmogenic Right Ventricular Dysplasia (10 Overlapping PMIDs. View on Twease.org )

+ IPI00220513 - Neurofibromin Neurofibromatosis-related protein NF-1 . NF1 (2 diseases found)

Neurofibromatosis 1 (366 Overlapping PMIDs. View on Twease.org )
Watson Syndrome (7 Overlapping PMIDs. View on Twease.org )

+ IPI00220514 - Neurofibromin Neurofibromatosis-related protein NF-1 . NF1 (2 diseases found)

Neurofibromatosis 1 (366 Overlapping PMIDs. View on Twease.org )
Watson Syndrome (7 Overlapping PMIDs. View on Twease.org )

+ IPI00291540 - Keratin type I cuticular Ha2 Hair keratin type I Ha2 Keratin-32 . KRT32 (2 diseases found)

Epidermolysis Bullosa Simplex (78 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (13 Overlapping PMIDs. View on Twease.org )

+ IPI00291560 - Arginase-1 EC 3.5.3.1 Type I arginase Liver-type arginase . ARG1 (2 diseases found)

Hyperargininemia (5 Overlapping PMIDs. View on Twease.org )
Argininemia (5 Overlapping PMIDs. View on Twease.org )

+ IPI00293088 - Lysosomal alpha-glucosidase precursor EC 3.2.1.20 Acid maltase Aglucosidase alfa . GAA (2 diseases found)

Pompe Disease (74 Overlapping PMIDs. View on Twease.org )
Pompe's Disease (49 Overlapping PMIDs. View on Twease.org )

+ IPI00294649 - Keratin type I cuticular Ha5 Hair keratin type I Ha5 . KRT35 (2 diseases found)

Epidermolysis Bullosa Simplex (105 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (19 Overlapping PMIDs. View on Twease.org )

+ IPI00297632 - Keratin type I cuticular Ha3-I Hair keratin type I Ha3-I . KRT33A (2 diseases found)

Epidermolysis Bullosa Simplex (105 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (19 Overlapping PMIDs. View on Twease.org )

+ IPI00299512 - Neurofibromin Neurofibromatosis-related protein NF-1 . NF1 (2 diseases found)

Neurofibromatosis 1 (366 Overlapping PMIDs. View on Twease.org )
Watson Syndrome (7 Overlapping PMIDs. View on Twease.org )

+ IPI00332371 - 6-phosphofructokinase liver type EC 2.7.1.11 Phosphofructokinase 1 Phosphohexokinase Phosphofructo-1-kinase isozyme B PFK-B . PFKL (2 diseases found)

Muscle Phosphofructokinase Deficiency (8 Overlapping PMIDs. View on Twease.org )
Tarui Disease (8 Overlapping PMIDs. View on Twease.org )

+ IPI00334276 - Copine-8 Copine VIII . CPNE8 (2 diseases found)

Factor VIII Deficiency (181 Overlapping PMIDs. View on Twease.org )
Factor VIII Deficiencies (7 Overlapping PMIDs. View on Twease.org )

+ IPI00334513 - Sulfatase-modifying factor 2 precursor C-alpha-formyglycine- generating enzyme 2 . SUMF2 (2 diseases found)

Multiple Sulfatase Deficiency (28 Overlapping PMIDs. View on Twease.org )
Morquio Disease (5 Overlapping PMIDs. View on Twease.org )

+ IPI00382869 - Farnesyl pyrophosphate synthetase FPP synthetase FPS Farnesyl diphosphate synthetase . FDPS (2 diseases found)

Calcium Pyrophosphate Dihydrate Deposition (105 Overlapping PMIDs. View on Twease.org )
Holocarboxylase Synthetase Deficiency (48 Overlapping PMIDs. View on Twease.org )

+ IPI00383581 - Neutral alpha-glucosidase AB precursor EC 3.2.1.84 Glucosidase II subunit alpha . GANAB (2 diseases found)

Pompe's Disease (20 Overlapping PMIDs. View on Twease.org )
Pompe Disease (10 Overlapping PMIDs. View on Twease.org )

+ IPI00384872 - UDP-glucuronosyltransferase 1-8 precursor EC 2.4.1.17 UDP- glucuronosyltransferase 1A8 UDPGT UGT1*8 UGT1-08 UGT1.8 UGT- 1H UGT1H . UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 (2 diseases found)

Crigler-Najjar Syndrome (57 Overlapping PMIDs. View on Twease.org )
Crigler Najjar Syndrome (57 Overlapping PMIDs. View on Twease.org )

+ IPI00386514 - UDP-glucuronosyltransferase 1-8 precursor EC 2.4.1.17 UDP- glucuronosyltransferase 1A8 UDPGT UGT1*8 UGT1-08 UGT1.8 UGT- 1H UGT1H . UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 (2 diseases found)

Crigler-Najjar Syndrome (57 Overlapping PMIDs. View on Twease.org )
Crigler Najjar Syndrome (57 Overlapping PMIDs. View on Twease.org )

+ IPI00395993 - Linker for activation of T-cells family member 2 Non-T-cell activation linker Linker for activation of B-cells Membrane- associated adapter molecule Williams-Beuren syndrome chromosome region 15 protein . LAT2 (2 diseases found)

Williams-Beuren Syndrome (36 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (36 Overlapping PMIDs. View on Twease.org )

+ IPI00397860 - Cytochrome b5. CYB5A (2 diseases found)

Cytochrome Oxidase Deficiency (52 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00410150 - Usherin precursor Usher syndrome type-2A protein Usher syndrome type IIa protein . USH2A (2 diseases found)

Usher Syndrome (360 Overlapping PMIDs. View on Twease.org )
Usher Syndromes (14 Overlapping PMIDs. View on Twease.org )

+ IPI00411462 - Fibronectin precursor FN Cold-insoluble globulin CIG . FN1 (2 diseases found)

Cold Panniculitis (13 Overlapping PMIDs. View on Twease.org )
Cold Sores (6 Overlapping PMIDs. View on Twease.org )

+ IPI00419574 - Keratin type I cuticular Ha3-I Hair keratin type I Ha3-I . KRT33A (2 diseases found)

Epidermolysis Bullosa Simplex (105 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (19 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)

alpha-Mannosidosis (17 Overlapping PMIDs. View on Twease.org )
alpha Mannosidosis (17 Overlapping PMIDs. View on Twease.org )

+ IPI00441414 - Neutral alpha-glucosidase AB precursor EC 3.2.1.84 Glucosidase II subunit alpha . GANAB (2 diseases found)

Pompe's Disease (20 Overlapping PMIDs. View on Twease.org )
Pompe Disease (10 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 (2 diseases found)

Stiff-Man Syndrome (5 Overlapping PMIDs. View on Twease.org )
Stiff Man Syndrome (5 Overlapping PMIDs. View on Twease.org )

+ IPI00455383 - Clathrin heavy chain 1 CLH-17 . CLTC (2 diseases found)

Heavy Chain Disease (185 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (38 Overlapping PMIDs. View on Twease.org )

+ IPI00456238 - Hemoglobin subunit mu Hemoglobin mu chain Mu-globin . HBM (2 diseases found)

mu Chain Disease (22 Overlapping PMIDs. View on Twease.org )
mu-Chain Disease (22 Overlapping PMIDs. View on Twease.org )

+ IPI00456969 - Dynein heavy chain cytosolic DYHC Cytoplasmic dynein heavy chain 1 DHC1 Dynein heavy chain 1 cytoplasmic 1 . DYNC1H1 (2 diseases found)

Heavy Chain Disease (252 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (45 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 (2 diseases found)

Bernard Soulier Syndrome (222 Overlapping PMIDs. View on Twease.org )
Bernard-Soulier Syndrome (222 Overlapping PMIDs. View on Twease.org )

+ IPI00465213 - Annexin A13 Annexin-13 Annexin XIII Annexin intestine-specific ISA . ANXA13 (2 diseases found)

Factor XIII Deficiency (212 Overlapping PMIDs. View on Twease.org )
Factor XIII Deficiencies (7 Overlapping PMIDs. View on Twease.org )

+ IPI00472068 - Neutral alpha-glucosidase AB precursor EC 3.2.1.84 Glucosidase II subunit alpha . GANAB (2 diseases found)

Pompe's Disease (20 Overlapping PMIDs. View on Twease.org )
Pompe Disease (10 Overlapping PMIDs. View on Twease.org )

+ IPI00477531 - Dynein heavy chain cytosolic DYHC Cytoplasmic dynein heavy chain 1 DHC1 Dynein heavy chain 1 cytoplasmic 1 . DYNC1H1 (2 diseases found)

Heavy Chain Disease (252 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (45 Overlapping PMIDs. View on Twease.org )

+ IPI00550115 - Acid sphingomyelinase-like phosphodiesterase 3b precursor EC 3.1.4.- ASM-like phosphodiesterase 3b . SMPDL3B (2 diseases found)

Niemann Pick Disease (60 Overlapping PMIDs. View on Twease.org )
Niemann-Pick Disease (60 Overlapping PMIDs. View on Twease.org )

+ IPI00643202 - Serpin B12. SERPINB12 (2 diseases found)

Vitamin B12 Deficiency (1399 Overlapping PMIDs. View on Twease.org )
Vitamin B12 Deficiencies (56 Overlapping PMIDs. View on Twease.org )

+ IPI00643736 - Cytochrome b5. CYB5A (2 diseases found)

Cytochrome Oxidase Deficiency (52 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 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 (2 diseases found)

Vitamin B12 Deficiency (964 Overlapping PMIDs. View on Twease.org )
Vitamin B12 Deficiencies (36 Overlapping PMIDs. View on Twease.org )

+ IPI00646039 - Cytochrome b5. CYB5A (2 diseases found)

Cytochrome Oxidase Deficiency (52 Overlapping PMIDs. View on Twease.org )
Cytochrome-c Oxidase Deficiencies (6 Overlapping PMIDs. View on Twease.org )

+ IPI00657670 - Apolipoprotein C-III precursor Apo-CIII ApoC-III . APOC3 (2 diseases found)

Apolipoprotein C II Deficiency (28 Overlapping PMIDs. View on Twease.org )
Apolipoprotein C-II Deficiency (28 Overlapping PMIDs. View on Twease.org )

+ IPI00657715 - Apolipoprotein C-III precursor Apo-CIII ApoC-III . APOC3 (2 diseases found)

Apolipoprotein C II Deficiency (28 Overlapping PMIDs. View on Twease.org )
Apolipoprotein C-II Deficiency (28 Overlapping PMIDs. View on Twease.org )

+ IPI00658186 - Geranylgeranyl pyrophosphate synthetase GGPP synthetase GGPPSase Geranylgeranyl diphosphate synthase . GGPS1 (2 diseases found)

Calcium Pyrophosphate Dihydrate Deposition (102 Overlapping PMIDs. View on Twease.org )
Holocarboxylase Synthetase Deficiency (44 Overlapping PMIDs. View on Twease.org )

+ IPI00735855 - Synaptopodin-2 Myopodin Genethonin 2 . SYNPO2 (2 diseases found)

HIV Associated Nephropathy (9 Overlapping PMIDs. View on Twease.org )
HIV-Associated Nephropathy (9 Overlapping PMIDs. View on Twease.org )

+ IPI00740123 - Alstrom syndrome protein 1. ALMS1 (2 diseases found)

Bardet Biedl Syndrome (6 Overlapping PMIDs. View on Twease.org )
Bardet-Biedl Syndrome (6 Overlapping PMIDs. View on Twease.org )

+ IPI00740909 - Alstrom syndrome protein 1. ALMS1 (2 diseases found)

Bardet Biedl Syndrome (6 Overlapping PMIDs. View on Twease.org )
Bardet-Biedl Syndrome (6 Overlapping PMIDs. View on Twease.org )

+ IPI00742098 - Synaptopodin-2 Myopodin Genethonin 2 . SYNPO2 (2 diseases found)

HIV Associated Nephropathy (9 Overlapping PMIDs. View on Twease.org )
HIV-Associated Nephropathy (9 Overlapping PMIDs. View on Twease.org )

+ IPI00743628 - G-protein coupled receptor 98 precursor Monogenic audiogenic seizure susceptibility protein 1 homolog Very large G-protein coupled receptor 1 Usher syndrome type-2C protein . GPR98 (2 diseases found)

Usher Syndrome (105 Overlapping PMIDs. View on Twease.org )
Usher Syndromes (5 Overlapping PMIDs. View on Twease.org )

+ IPI00744685 - Biotinidase precursor EC 3.5.1.12 . BTD (2 diseases found)

Biotinidase Deficiency (42 Overlapping PMIDs. View on Twease.org )
Multiple Carboxylase Deficiency (8 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 (2 diseases found)

Bernard Soulier Syndrome (224 Overlapping PMIDs. View on Twease.org )
Bernard-Soulier Syndrome (224 Overlapping PMIDs. View on Twease.org )

+ IPI00749231 - G-protein coupled receptor 98 precursor Monogenic audiogenic seizure susceptibility protein 1 homolog Very large G-protein coupled receptor 1 Usher syndrome type-2C protein . GPR98 (2 diseases found)

Usher Syndrome (105 Overlapping PMIDs. View on Twease.org )
Usher Syndromes (5 Overlapping PMIDs. View on Twease.org )

+ IPI00783169 - Coagulation factor XII precursor EC 3.4.21.38 Hageman factor HAF . F12 (2 diseases found)

Factor XII Deficiency (96 Overlapping PMIDs. View on Twease.org )
Hageman Trait (34 Overlapping PMIDs. View on Twease.org )

+ IPI00783446 - Lysosomal alpha-glucosidase precursor EC 3.2.1.20 Acid maltase Aglucosidase alfa . GAA (2 diseases found)

Pompe Disease (74 Overlapping PMIDs. View on Twease.org )
Pompe's Disease (49 Overlapping PMIDs. View on Twease.org )

+ IPI00788073 - Huntingtin-interacting protein 1-related protein Hip1-related Hip 12 . HIP1R (2 diseases found)

Huntington's Disease (282 Overlapping PMIDs. View on Twease.org )
Huntington Disease (56 Overlapping PMIDs. View on Twease.org )

+ IPI00788678 - Myosin-15 Myosin heavy chain 15 . MYH15 (2 diseases found)

Heavy Chain Disease (287 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (49 Overlapping PMIDs. View on Twease.org )

+ IPI00789302 - Serpin B12. SERPINB12 (2 diseases found)

Vitamin B12 Deficiency (1399 Overlapping PMIDs. View on Twease.org )
Vitamin B12 Deficiencies (56 Overlapping PMIDs. View on Twease.org )

+ IPI00789424 - Biotinidase precursor EC 3.5.1.12 . BTD (2 diseases found)

Biotinidase Deficiency (42 Overlapping PMIDs. View on Twease.org )
Multiple Carboxylase Deficiency (8 Overlapping PMIDs. View on Twease.org )

+ IPI00789901 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00790172 - Keratin type I cuticular Ha5 Hair keratin type I Ha5 . KRT35 (2 diseases found)

Epidermolysis Bullosa Simplex (105 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (19 Overlapping PMIDs. View on Twease.org )

+ IPI00790354 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00790485 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00791011 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00792499 - Methylcrotonoyl-CoA carboxylase subunit alpha mitochondrial precursor EC 6.4.1.4 3-methylcrotonyl-CoA carboxylase 1 MCCase subunit alpha 3-methylcrotonyl-CoA carbon dioxide ligase subunit alpha 3- methylcrotonyl-CoA carboxylase biotin-containing MCCC1 (2 diseases found)

Multiple Carboxylase Deficiency (20 Overlapping PMIDs. View on Twease.org )
Holocarboxylase Synthetase Deficiency (6 Overlapping PMIDs. View on Twease.org )

+ IPI00793559 - Linker for activation of T-cells family member 2 Non-T-cell activation linker Linker for activation of B-cells Membrane- associated adapter molecule Williams-Beuren syndrome chromosome region 15 protein . LAT2 (2 diseases found)

Williams-Beuren Syndrome (36 Overlapping PMIDs. View on Twease.org )
Williams Beuren Syndrome (36 Overlapping PMIDs. View on Twease.org )

+ IPI00793664 - Fumarylacetoacetase EC 3.7.1.2 Fumarylacetoacetate hydrolase Beta-diketonase FAA . FAH (2 diseases found)

Tyrosinemia (80 Overlapping PMIDs. View on Twease.org )
Hereditary Tyrosinemia (67 Overlapping PMIDs. View on Twease.org )

+ IPI00794099 - Copine-8 Copine VIII . CPNE8 (2 diseases found)

Factor VIII Deficiency (181 Overlapping PMIDs. View on Twease.org )
Factor VIII Deficiencies (7 Overlapping PMIDs. View on Twease.org )

+ IPI00794247 - Fumarylacetoacetase EC 3.7.1.2 Fumarylacetoacetate hydrolase Beta-diketonase FAA . FAH (2 diseases found)

Tyrosinemia (80 Overlapping PMIDs. View on Twease.org )
Hereditary Tyrosinemia (67 Overlapping PMIDs. View on Twease.org )

+ IPI00796364 - Keratin type I cuticular Ha1 Hair keratin type I Ha1 Keratin-31 . KRT31 (2 diseases found)

Epidermolysis Bullosa Simplex (82 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (14 Overlapping PMIDs. View on Twease.org )

+ IPI00796899 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00797428 - G-protein coupled receptor 98 precursor Monogenic audiogenic seizure susceptibility protein 1 homolog Very large G-protein coupled receptor 1 Usher syndrome type-2C protein . GPR98 (2 diseases found)

Usher Syndrome (105 Overlapping PMIDs. View on Twease.org )
Usher Syndromes (5 Overlapping PMIDs. View on Twease.org )

+ IPI00798030 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00798228 - Keratin type I cuticular Ha3-I Hair keratin type I Ha3-I . KRT33A (2 diseases found)

Epidermolysis Bullosa Simplex (105 Overlapping PMIDs. View on Twease.org )
Ichthyosis Bullosa of Siemens (19 Overlapping PMIDs. View on Twease.org )

+ IPI00827873 - N-acetylneuraminate lyase EC 4.1.3.3 NALase N-acetylneuraminic acid aldolase N-acetylneuraminate pyruvate-lyase Sialic acid lyase Sialate lyase Sialate-pyruvate lyase Sialic acid aldolase . NPL (2 diseases found)

Salla Disease (16 Overlapping PMIDs. View on Twease.org )
Sialuria (16 Overlapping PMIDs. View on Twease.org )

+ IPI00830135 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00844486 - Kinesin heavy chain Ubiquitous kinesin heavy chain UKHC . KIF5B (2 diseases found)

Heavy Chain Disease (328 Overlapping PMIDs. View on Twease.org )
Heavy Chain Diseases (58 Overlapping PMIDs. View on Twease.org )

+ IPI00853110 - Disks large homolog 1 Synapse-associated protein 97 SAP-97 hDlg . DLG1 (2 diseases found)

X Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )
X-Linked Lymphoproliferative Syndrome (19 Overlapping PMIDs. View on Twease.org )

+ IPI00854639 - Alstrom syndrome protein 1. ALMS1 (2 diseases found)