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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 |
|---|---|---|---|---|---|
| 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 |
| C0268583 | Methylmalonic acidemia | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1860819 | Metopic synostosis | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1959626 | Mevalonic Aciduria | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0221021 | Microangiopathic hemolytic anemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0221021 | Microangiopathic hemolytic anemia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0221021 | Microangiopathic hemolytic anemia | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0025945 | Microangiopathy, Diabetic | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0025945 | Microangiopathy, Diabetic | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0025945 | Microangiopathy, Diabetic | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0025958 | Microcephaly | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0025958 | Microcephaly | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0025958 | Microcephaly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0025958 | Microcephaly | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0025958 | Microcephaly | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0025958 | Microcephaly | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0025958 | Microcephaly | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0025958 | Microcephaly | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0025958 | Microcephaly | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
