Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C1846672 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1846707 | SPINOCEREBELLAR ATAXIA 17 | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C1846896 | Deafness, Autosomal Recessive 22 | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1847319 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1847319 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1847319 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1847351 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | CBR4 | 84869 | carbonyl reductase 4 | Q8N4T8 |
| C1847360 | PARKINSON DISEASE 10 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1847540 | Azoospermia, Nonobstructive | PGK2 | 5232 | phosphoglycerate kinase 2 | P07205 |
| C1847540 | Azoospermia, Nonobstructive | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1847540 | Azoospermia, Nonobstructive | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C1847540 | Azoospermia, Nonobstructive | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1847540 | Azoospermia, Nonobstructive | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1847540 | Azoospermia, Nonobstructive | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1847540 | Azoospermia, Nonobstructive | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1847593 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1847640 | KUFOR-RAKEB SYNDROME | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1847640 | KUFOR-RAKEB SYNDROME | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1847800 | Waardenburg Syndrome Type 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1848030 | Hypotonia-Cystinuria Syndrome | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1848172 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1848199 | X-Linked Lissencephaly | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1848199 | X-Linked Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
