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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 |
|---|---|---|---|---|---|
| C3279841 | Pyruvate Dehydrogenase E1-Beta Deficiency | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| 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 |
| 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 |
| C0034341 | Pyruvate Carboxylase Deficiency Disease | PC | 5091 | pyruvate carboxylase | P11498 |
| C0034341 | Pyruvate Carboxylase Deficiency Disease | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0085652 | Pyoderma Gangrenosum | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0034212 | Pyoderma | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0700639 | Pyloric Stenosis, Hypertrophic | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0034194 | Pyloric Stenosis | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0034194 | Pyloric Stenosis | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0034194 | Pyloric Stenosis | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0034194 | Pyloric Stenosis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0034194 | Pyloric Stenosis | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0034194 | Pyloric Stenosis | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0034194 | Pyloric Stenosis | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
