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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 |
|---|---|---|---|---|---|
| C0242292 | McCune-Albright Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0242292 | McCune-Albright Syndrome | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0242292 | McCune-Albright Syndrome | AMY1B | 277 | amylase alpha 1B | P04745 |
| C0242292 | McCune-Albright Syndrome | AMY1A | 276 | amylase alpha 1A | P04745 |
| C0242292 | McCune-Albright Syndrome | AMY1C | 278 | amylase alpha 1C | P04745 |
| C0242292 | McCune-Albright Syndrome | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0242342 | Sheehan Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0242342 | Sheehan Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0242343 | Panhypopituitarism | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0242343 | Panhypopituitarism | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0242350 | Erectile dysfunction | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0242350 | Erectile dysfunction | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0242350 | Erectile dysfunction | ENO2 | 2026 | enolase 2 | P09104 |
| C0242350 | Erectile dysfunction | SDC1 | 6382 | syndecan 1 | P18827 |
| C0242350 | Erectile dysfunction | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0242350 | Erectile dysfunction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0242350 | Erectile dysfunction | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0242350 | Erectile dysfunction | LPL | 4023 | lipoprotein lipase | P06858 |
| C0242350 | Erectile dysfunction | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0242350 | Erectile dysfunction | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0242350 | Erectile dysfunction | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0242350 | Erectile dysfunction | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0242350 | Erectile dysfunction | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0242350 | Erectile dysfunction | CDH13 | 1012 | cadherin 13 | P55290 |
| C0242350 | Erectile dysfunction | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
