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DisGeNET
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 |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1838867 | PARKINSON DISEASE, MITOCHONDRIAL (disorder) | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C1838702 | Retinitis Pigmentosa 13 | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1838701 | DEAFNESS, AUTOSOMAL RECESSIVE 2 | TECTA | 7007 | tectorin alpha | O75443 |
| 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 |
| C1838644 | Stargardt disease 3 | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1838644 | Stargardt disease 3 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1838612 | Rhizomelic chondrodysplasia punctata, type 3 | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C1838577 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | CTSA | 5476 | cathepsin A | P10619 |
| C1838571 | Ceroid Lipofuscinosis, Neuronal, 7 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1838570 | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1838429 | Epiphyseal dysplasia, multiple, 2 | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C1838244 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1838100 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) | GCK | 2645 | glucokinase | P35557 |
| C1837991 | Colorectal Adenomatous Polyposis, Autosomal Recessive | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C1837657 | Spondyloepiphyseal dysplasia, Omani type | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1837549 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ST6GALNAC3 | 256435 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 | Q8NDV1 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ST8SIA5 | 29906 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 | O15466 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | B4GALNT3 | 283358 | beta-1,4-N-acetyl-galactosaminyltransferase 3 | Q6L9W6 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | GALNT11 | 63917 | polypeptide N-acetylgalactosaminyltransferase 11 | Q8NCW6 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | GALNT16 | 57452 | polypeptide N-acetylgalactosaminyltransferase 16 | Q8N428 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
