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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 |
|---|---|---|---|---|---|
| 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 |
| C0039685 | Tetralogy of Fallot | GPC5 | 2262 | glypican 5 | P78333 |
| C0039685 | Tetralogy of Fallot | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0039685 | Tetralogy of Fallot | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0039685 | Tetralogy of Fallot | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| 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 |
| C0039614 | Tetanus | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| 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 |
| C0039590 | Testicular Neoplasms | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0039590 | Testicular Neoplasms | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0039590 | Testicular Neoplasms | FH | 2271 | fumarate hydratase | P07954 |
| C0039590 | Testicular Neoplasms | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
| C0039590 | Testicular Neoplasms | LCT | 3938 | lactase | P09848 |
| 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 |
| C1336708 | Testicular Germ Cell Tumor | GCNT1 | 2650 | glucosaminyl (N-acetyl) transferase 1 | Q02742 |
| C1336708 | Testicular Germ Cell Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
