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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 |
|---|---|---|---|---|---|
| C0001125 | Acidosis, Lactic | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C3279841 | Pyruvate Dehydrogenase E1-Beta Deficiency | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0025202 | melanoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C3642346 | Luminal B Breast Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0678222 | Breast Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C1266043 | Sarcomatoid Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0023264 | Leigh Disease | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C1306837 | Papillary Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0007134 | Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0027051 | Myocardial Infarction | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0403810 | Oligosynaptic Infertility | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0000768 | Congenital Abnormality | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0021364 | Male infertility | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0026650 | Movement Disorders | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0023264 | Leigh Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0600139 | Prostate carcinoma | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
