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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 |
|---|---|---|---|---|---|
| C0268568 | Classic Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0268568 | Classic Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0268569 | Intermittent Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0268569 | Intermittent Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0268569 | Intermittent Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0268575 | Isovaleryl-CoA dehydrogenase deficiency | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0268575 | Isovaleryl-CoA dehydrogenase deficiency | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0268575 | Isovaleryl-CoA dehydrogenase deficiency | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0268575 | Isovaleryl-CoA dehydrogenase deficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0268575 | Isovaleryl-CoA dehydrogenase deficiency | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0268575 | Isovaleryl-CoA dehydrogenase deficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0268576 | Hyperleucinemia | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0268579 | Propionic acidemia | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0268579 | Propionic acidemia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0268579 | Propionic acidemia | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0268579 | Propionic acidemia | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0268579 | Propionic acidemia | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0268581 | Holocarboxylase Synthetase Deficiency | PC | 5091 | pyruvate carboxylase | P11498 |
| C0268583 | Methylmalonic acidemia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0268583 | Methylmalonic acidemia | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268583 | Methylmalonic acidemia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0268583 | Methylmalonic acidemia | SUCLG2 | 8801 | succinate-CoA ligase GDP-forming subunit beta | Q96I99 |
| C0268583 | Methylmalonic acidemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0268583 | Methylmalonic acidemia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0268583 | Methylmalonic acidemia | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
