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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 |
|---|---|---|---|---|---|
| C1847640 | KUFOR-RAKEB SYNDROME | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1847640 | KUFOR-RAKEB SYNDROME | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1847593 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| 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 |
| C1847360 | PARKINSON DISEASE 10 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1847351 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | CBR4 | 84869 | carbonyl reductase 4 | Q8N4T8 |
| 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 |
| C1846896 | Deafness, Autosomal Recessive 22 | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1846707 | SPINOCEREBELLAR ATAXIA 17 | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C1846672 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1846672 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1846564 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C1846357 | Meckel syndrome type 3 | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C1846223 | Adrenal hypoplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1846175 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1846142 | HOYERAAL-HREIDARSSON SYNDROME | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
