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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 |
|---|---|---|---|---|---|
| C0751571 | Cancer of Urinary Tract | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0751571 | Cancer of Urinary Tract | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0751587 | CADASIL Syndrome | CTSA | 5476 | cathepsin A | P10619 |
| C0751587 | CADASIL Syndrome | DCN | 1634 | decorin | P07585 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0751602 | Hereditary Autosomal Dominant Spastic Paraplegia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751602 | Hereditary Autosomal Dominant Spastic Paraplegia | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0751606 | Adult Acute Lymphocytic Leukemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0751606 | Adult Acute Lymphocytic Leukemia | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0751606 | Adult Acute Lymphocytic Leukemia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0751606 | Adult Acute Lymphocytic Leukemia | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0751606 | Adult Acute Lymphocytic Leukemia | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0751606 | Adult Acute Lymphocytic Leukemia | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0751606 | Adult Acute Lymphocytic Leukemia | ENO2 | 2026 | enolase 2 | P09104 |
| C0751606 | Adult Acute Lymphocytic Leukemia | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0751606 | Adult Acute Lymphocytic Leukemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0751606 | Adult Acute Lymphocytic Leukemia | HK1 | 3098 | hexokinase 1 | P19367 |
| C0751606 | Adult Acute Lymphocytic Leukemia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0751606 | Adult Acute Lymphocytic Leukemia | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0751606 | Adult Acute Lymphocytic Leukemia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0751606 | Adult Acute Lymphocytic Leukemia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0751606 | Adult Acute Lymphocytic Leukemia | CD38 | 952 | CD38 molecule | P28907 |
| C0751606 | Adult Acute Lymphocytic Leukemia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0751606 | Adult Acute Lymphocytic Leukemia | CNTFR | 1271 | ciliary neurotrophic factor receptor | P26992 |
