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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 |
|---|---|---|---|---|---|
| C0017531 | Angiolymphoid hyperplasia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0017531 | Angiolymphoid hyperplasia | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0017531 | Angiolymphoid hyperplasia | CD48 | 962 | CD48 molecule | P09326 |
| C0002985 | Angiokeratoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0002985 | Angiokeratoma | GLA | 2717 | galactosidase alpha | P06280 |
| C0002985 | Angiokeratoma | MANBA | 4126 | mannosidase beta | O00462 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | STS | 412 | steroid sulfatase | P08842 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020981 | Angioimmunoblastic Lymphadenopathy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0002982 | Angioid Streaks | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0002982 | Angioid Streaks | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0002982 | Angioid Streaks | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0002982 | Angioid Streaks | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0002982 | Angioid Streaks | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0002982 | Angioid Streaks | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0019243 | Angioedemas, Hereditary | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0019243 | Angioedemas, Hereditary | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
