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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 |
|---|---|---|---|---|---|
| C0039590 | Testicular Neoplasms | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0039590 | Testicular Neoplasms | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0039590 | Testicular Neoplasms | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0039590 | Testicular Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0151721 | Testicular hypogonadism | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0151721 | Testicular hypogonadism | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0151721 | Testicular hypogonadism | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0151721 | Testicular hypogonadism | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0039614 | Tetanus | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0039621 | Tetany | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0039621 | Tetany | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0039621 | Tetany | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0039685 | Tetralogy of Fallot | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0039685 | Tetralogy of Fallot | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0039685 | Tetralogy of Fallot | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0039685 | Tetralogy of Fallot | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0039685 | Tetralogy of Fallot | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0039685 | Tetralogy of Fallot | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0039685 | Tetralogy of Fallot | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0039685 | Tetralogy of Fallot | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0039685 | Tetralogy of Fallot | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0039685 | Tetralogy of Fallot | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0039685 | Tetralogy of Fallot | CD48 | 962 | CD48 molecule | P09326 |
| C0039685 | Tetralogy of Fallot | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0039685 | Tetralogy of Fallot | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
