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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 |
|---|---|---|---|---|---|
| C0700639 | Pyloric Stenosis, Hypertrophic | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0034212 | Pyoderma | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0085652 | Pyoderma Gangrenosum | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0034341 | Pyruvate Carboxylase Deficiency Disease | PC | 5091 | pyruvate carboxylase | P11498 |
| C0034341 | Pyruvate Carboxylase Deficiency Disease | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1839413 | Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1839413 | Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C3279841 | Pyruvate Dehydrogenase E1-Beta Deficiency | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C1855565 | Pyruvate Dehydrogenase E2 Deficiency | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C1855553 | Pyruvate Dehydrogenase E3-Binding Protein Deficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0034362 | Q Fever | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0034362 | Q Fever | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0034362 | Q Fever | LSS | 4047 | lanosterol synthase | P48449 |
| C0270790 | Quadriparesis | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270790 | Quadriparesis | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
