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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 |
|---|---|---|---|---|---|
| C0259749 | Autonomic neuropathy | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0259779 | Fibrous Dysplasia | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0259779 | Fibrous Dysplasia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0259779 | Fibrous Dysplasia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0259779 | Fibrous Dysplasia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0259782 | Telangiectatic osteosarcoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0259783 | mixed gliomas | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0259783 | mixed gliomas | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0259783 | mixed gliomas | CAT | 847 | catalase | P04040 |
| C0259783 | mixed gliomas | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0259783 | mixed gliomas | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0259785 | Malignant Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0262401 | Carcinoma of ampulla of Vater | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0262401 | Carcinoma of ampulla of Vater | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0262401 | Carcinoma of ampulla of Vater | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0262401 | Carcinoma of ampulla of Vater | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0262401 | Carcinoma of ampulla of Vater | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0262401 | Carcinoma of ampulla of Vater | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0262401 | Carcinoma of ampulla of Vater | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0262401 | Carcinoma of ampulla of Vater | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0262401 | Carcinoma of ampulla of Vater | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0262584 | Carcinoma, Small Cell | ENO2 | 2026 | enolase 2 | P09104 |
| C0262584 | Carcinoma, Small Cell | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0262584 | Carcinoma, Small Cell | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0262584 | Carcinoma, Small Cell | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
