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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 |
|---|---|---|---|---|---|
| C0751651 | Mitochondrial Diseases | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0751651 | Mitochondrial Diseases | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0751651 | Mitochondrial Diseases | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0751651 | Mitochondrial Diseases | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0751651 | Mitochondrial Diseases | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0751651 | Mitochondrial Diseases | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0751651 | Mitochondrial Diseases | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0751651 | Mitochondrial Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0751645 | Human Transmissible Spongiform Encephalopathies, Inherited | PRNP | 5621 | prion protein | P04156 |
| C0751645 | Human Transmissible Spongiform Encephalopathies, Inherited | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751633 | Carotid Artery Plaque | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751633 | Carotid Artery Plaque | LPL | 4023 | lipoprotein lipase | P06858 |
| C0751633 | Carotid Artery Plaque | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751633 | Carotid Artery Plaque | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0751617 | Semilobar Holoprosencephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| 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 |
