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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 |
|---|---|---|---|---|---|
| C2930618 | Intersex Conditions | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C2930618 | Intersex Conditions | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C2930618 | Intersex Conditions | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C2930471 | Bilateral Wilms Tumor | CAT | 847 | catalase | P04040 |
| C2930471 | Bilateral Wilms Tumor | GPC3 | 2719 | glypican 3 | P51654 |
| C2919945 | Cavernous Hemangioma of Brain | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C2919945 | Cavernous Hemangioma of Brain | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C2919945 | Cavernous Hemangioma of Brain | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C2919945 | Cavernous Hemangioma of Brain | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2919945 | Cavernous Hemangioma of Brain | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C2919945 | Cavernous Hemangioma of Brain | STS | 412 | steroid sulfatase | P08842 |
| C2919945 | Cavernous Hemangioma of Brain | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C2919945 | Cavernous Hemangioma of Brain | GLO1 | 2739 | glyoxalase I | Q04760 |
| C2919945 | Cavernous Hemangioma of Brain | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2919945 | Cavernous Hemangioma of Brain | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2919945 | Cavernous Hemangioma of Brain | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2919828 | Chronic ulcerative colitis | ARSA | 410 | arylsulfatase A | P15289 |
| C2919828 | Chronic ulcerative colitis | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C2919828 | Chronic ulcerative colitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2919828 | Chronic ulcerative colitis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C2919828 | Chronic ulcerative colitis | CAT | 847 | catalase | P04040 |
| C2919828 | Chronic ulcerative colitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2919828 | Chronic ulcerative colitis | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C2919828 | Chronic ulcerative colitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2919828 | Chronic ulcerative colitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
