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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 |
|---|---|---|---|---|---|
| C3463824 | MYELODYSPLASTIC SYNDROME | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C3463824 | MYELODYSPLASTIC SYNDROME | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C3463824 | MYELODYSPLASTIC SYNDROME | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C3463824 | MYELODYSPLASTIC SYNDROME | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C3463824 | MYELODYSPLASTIC SYNDROME | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C3463824 | MYELODYSPLASTIC SYNDROME | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C3463824 | MYELODYSPLASTIC SYNDROME | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3463824 | MYELODYSPLASTIC SYNDROME | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C3281289 | TRICHOHEPATOENTERIC SYNDROME 2 | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3281192 | INFANTILE CEREBELLAR-RETINAL DEGENERATION | ACO2 | 50 | aconitase 2 | Q99798 |
| C3281084 | Congenital disorder of glycosylation type 1r | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C3280914 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C3280428 | Alpha-Methylacyl-CoA Racemase Deficiency | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C3280428 | Alpha-Methylacyl-CoA Racemase Deficiency | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C3280371 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
