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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 |
|---|---|---|---|---|---|
| C0948896 | Primary hypogonadism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0948896 | Primary hypogonadism | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0948896 | Primary hypogonadism | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0948740 | Hypoplasia of the pituitary gland | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0948480 | Coronary Restenosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0948480 | Coronary Restenosis | CDH13 | 1012 | cadherin 13 | P55290 |
| C0948242 | Nuchal bleb, familial | LPL | 4023 | lipoprotein lipase | P06858 |
| C0948216 | Ovarian adenocarcinoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0948216 | Ovarian adenocarcinoma | NEU3 | 10825 | neuraminidase 3 | Q9UQ49 |
| C0948216 | Ovarian adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0948216 | Ovarian adenocarcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0948008 | Ischemic stroke | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0948008 | Ischemic stroke | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0948008 | Ischemic stroke | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0948008 | Ischemic stroke | GLA | 2717 | galactosidase alpha | P06280 |
| C0948008 | Ischemic stroke | ARSA | 410 | arylsulfatase A | P15289 |
| C0948008 | Ischemic stroke | HPSE | 10855 | heparanase | Q9Y251 |
| C0948008 | Ischemic stroke | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0948008 | Ischemic stroke | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0948008 | Ischemic stroke | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0948008 | Ischemic stroke | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0948008 | Ischemic stroke | ENO2 | 2026 | enolase 2 | P09104 |
| C0948008 | Ischemic stroke | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0948008 | Ischemic stroke | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0948008 | Ischemic stroke | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
