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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 |
|---|---|---|---|---|---|
| C0393706 | Early infantile epileptic encephalopathy with suppression bursts | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0393699 | Symptomatic Infantile Spasms | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0393699 | Symptomatic Infantile Spasms | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0393698 | Cryptogenic Infantile Spasms | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0393610 | Dystonia, Diurnal | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0393598 | Idiopathic familial dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0393593 | Dystonia Disorders | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0393593 | Dystonia Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0393593 | Dystonia Disorders | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0393593 | Dystonia Disorders | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0393593 | Dystonia Disorders | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0393593 | Dystonia Disorders | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0393593 | Dystonia Disorders | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0393593 | Dystonia Disorders | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0393593 | Dystonia Disorders | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0393593 | Dystonia Disorders | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0393593 | Dystonia Disorders | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0393593 | Dystonia Disorders | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0393593 | Dystonia Disorders | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0393593 | Dystonia Disorders | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0393593 | Dystonia Disorders | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0393593 | Dystonia Disorders | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0393593 | Dystonia Disorders | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
