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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 |
|---|---|---|---|---|---|
| C0004509 | Azoospermia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0004509 | Azoospermia | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
| C0004509 | Azoospermia | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0004509 | Azoospermia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0004509 | Azoospermia | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0004509 | Azoospermia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0004509 | Azoospermia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0004509 | Azoospermia | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0004509 | Azoospermia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0004509 | Azoospermia | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0004364 | Autoimmune Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0004364 | Autoimmune Diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004364 | Autoimmune Diseases | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0004364 | Autoimmune Diseases | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0004364 | Autoimmune Diseases | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0004364 | Autoimmune Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004364 | Autoimmune Diseases | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0004364 | Autoimmune Diseases | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0004364 | Autoimmune Diseases | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0004364 | Autoimmune Diseases | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0004364 | Autoimmune Diseases | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0004364 | Autoimmune Diseases | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004364 | Autoimmune Diseases | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0004364 | Autoimmune Diseases | HPSE | 10855 | heparanase | Q9Y251 |
| C0004364 | Autoimmune Diseases | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
