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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 |
|---|---|---|---|---|---|
| C0025322 | Premature Menopause | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0025322 | Premature Menopause | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0025322 | Premature Menopause | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0025322 | Premature Menopause | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0025322 | Premature Menopause | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0025322 | Premature Menopause | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0025322 | Premature Menopause | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0025322 | Premature Menopause | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0025322 | Premature Menopause | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0025322 | Premature Menopause | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C0025322 | Premature Menopause | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0025322 | Premature Menopause | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0025322 | Premature Menopause | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0025322 | Premature Menopause | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0025322 | Premature Menopause | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0025322 | Premature Menopause | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033038 | Premature Ejaculation | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0852036 | Pregnancy associated hypertension | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0852036 | Pregnancy associated hypertension | SDC1 | 6382 | syndecan 1 | P18827 |
| C0852036 | Pregnancy associated hypertension | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0852036 | Pregnancy associated hypertension | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0852036 | Pregnancy associated hypertension | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0852036 | Pregnancy associated hypertension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0852036 | Pregnancy associated hypertension | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0852036 | Pregnancy associated hypertension | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
