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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 |
|---|---|---|---|---|---|
| C0042170 | Uveomeningoencephalitic Syndrome | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C4554007 | Uveoretinal Coloboma | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1848599 | VACTERL Association With Hydrocephalus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1876172 | VAH, AUTOSOMAL RECESSIVE | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | THEM5 | 284486 | thioesterase superfamily member 5 | Q8N1Q8 |
| C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0042258 | Vaginal Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0042258 | Vaginal Neoplasms | FH | 2271 | fumarate hydratase | P07954 |
| C0042267 | Vaginitis | GLA | 2717 | galactosidase alpha | P06280 |
| C0432272 | Van Buchem disease | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0175697 | Van der Woude syndrome | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0175697 | Van der Woude syndrome | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0175697 | Van der Woude syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0175697 | Van der Woude syndrome | UMOD | 7369 | uromodulin | P07911 |
| C0175697 | Van der Woude syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0175697 | Van der Woude syndrome | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0175697 | Van der Woude syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0175697 | Van der Woude syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0175697 | Van der Woude syndrome | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0175697 | Van der Woude syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0175697 | Van der Woude syndrome | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0042341 | Varicocele | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0042341 | Varicocele | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0042341 | Varicocele | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0042341 | Varicocele | LYPD5 | 284348 | LY6/PLAUR domain containing 5 | Q6UWN5 |
