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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 |
|---|---|---|---|---|---|
| C0282513 | Primary Progressive Aphasia (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0282525 | Adrenoleukodystrophy, Neonatal | CAT | 847 | catalase | P04040 |
| C0282525 | Adrenoleukodystrophy, Neonatal | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0282526 | Hyperpipecolic Acidemia | CAT | 847 | catalase | P04040 |
| C0282526 | Hyperpipecolic Acidemia | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0282527 | Infantile Refsum Disease (disorder) | CAT | 847 | catalase | P04040 |
| C0282527 | Infantile Refsum Disease (disorder) | GPD1 | 2819 | glycerol-3-phosphate dehydrogenase 1 | P21695 |
| C0282528 | Peroxisomal Disorders | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0282528 | Peroxisomal Disorders | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0282528 | Peroxisomal Disorders | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0282528 | Peroxisomal Disorders | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0282528 | Peroxisomal Disorders | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0282528 | Peroxisomal Disorders | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0282548 | Leukostasis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0282548 | Leukostasis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0282548 | Leukostasis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0282548 | Leukostasis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0282548 | Leukostasis | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
| C0282550 | Persian Gulf Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0282577 | Congenital Disorders of Glycosylation | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0282577 | Congenital Disorders of Glycosylation | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0282577 | Congenital Disorders of Glycosylation | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
