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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 |
|---|---|---|---|---|---|
| C3696376 | 3-Methylglutaconic Aciduria | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C3696376 | 3-Methylglutaconic Aciduria | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C1291230 | 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C1853490 | 22q13.3 Deletion Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C1853490 | 22q13.3 Deletion Syndrome | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C3266731 | 2-methyl-3-hydroxybutyric aciduria | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3266731 | 2-methyl-3-hydroxybutyric aciduria | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C3665382 | 2,8-Dihydroxyadenine Urolithiasis | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C3665382 | 2,8-Dihydroxyadenine Urolithiasis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3665382 | 2,8-Dihydroxyadenine Urolithiasis | UMOD | 7369 | uromodulin | P07911 |
| C3277849 | 17,20-Lyase Deficiency, Isolated | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C3697269 | 15q24 Microdeletion | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C4329210 | 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C2047886 | (Idiopathic) normal pressure hydrocephalus | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2047886 | (Idiopathic) normal pressure hydrocephalus | NCAN | 1463 | neurocan | O14594 |
