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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0162309 | Adrenoleukodystrophy | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
C0282525 | Adrenoleukodystrophy, Neonatal | CAT | 847 | catalase | P04040 |
C0282525 | Adrenoleukodystrophy, Neonatal | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
C1527231 | Adrenomyeloneuropathy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C1527231 | Adrenomyeloneuropathy | MBOAT2 | 129642 | membrane bound O-acyltransferase domain containing 2 | Q6ZWT7 |
C1527231 | Adrenomyeloneuropathy | GPAT2 | 150763 | glycerol-3-phosphate acyltransferase 2, mitochondrial | Q6NUI2 |
C1527231 | Adrenomyeloneuropathy | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
C1527231 | Adrenomyeloneuropathy | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
C1527231 | Adrenomyeloneuropathy | CD1D | 912 | CD1d molecule | P15813 |
C1527231 | Adrenomyeloneuropathy | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
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 |
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Last updated: August 19, 2024