DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
Source | Last Updated |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
C1837549 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C1837657 | Spondyloepiphyseal dysplasia, Omani type | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
C1837991 | Colorectal Adenomatous Polyposis, Autosomal Recessive | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
C1838100 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) | GCK | 2645 | glucokinase | P35557 |
C1838244 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C1838429 | Epiphyseal dysplasia, multiple, 2 | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
C1838570 | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C1838571 | Ceroid Lipofuscinosis, Neuronal, 7 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C1838577 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | CTSA | 5476 | cathepsin A | P10619 |
C1838612 | Rhizomelic chondrodysplasia punctata, type 3 | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
C1838644 | Stargardt disease 3 | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
C1838644 | Stargardt disease 3 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
C1838657 | Vitamin D Hydroxylation-Deficient Rickets, Type 1B | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
C1838657 | Vitamin D Hydroxylation-Deficient Rickets, Type 1B | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
C1838701 | DEAFNESS, AUTOSOMAL RECESSIVE 2 | TECTA | 7007 | tectorin alpha | O75443 |
C1838702 | Retinitis Pigmentosa 13 | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
C1838867 | PARKINSON DISEASE, MITOCHONDRIAL (disorder) | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
C1839130 | Dystonia 3, Torsion, X-Linked | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
C1839163 | THROMBOCYTOPENIA 1 (disorder) | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
C1839163 | THROMBOCYTOPENIA 1 (disorder) | CAT | 847 | catalase | P04040 |
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Last updated: August 19, 2024