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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 |
|---|---|---|---|---|---|
| C0852036 | Pregnancy associated hypertension | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0033038 | Premature Ejaculation | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0025322 | Premature Menopause | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0025322 | Premature Menopause | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025322 | Premature Menopause | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0025322 | Premature Menopause | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0025322 | Premature Menopause | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0025322 | Premature Menopause | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0025322 | Premature Menopause | KL | 9365 | klotho | Q9UEF7 |
| C0025322 | Premature Menopause | CD38 | 952 | CD38 molecule | P28907 |
| C0025322 | Premature Menopause | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0025322 | Premature Menopause | LGALS1 | 3956 | galectin 1 | P09382 |
| C0025322 | Premature Menopause | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| 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 |
