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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 |
|---|---|---|---|---|---|
| C2239176 | Liver carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0153452 | Malignant neoplasm of gallbladder | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0008350 | Cholelithiasis | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0678222 | Breast Carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0011849 | Diabetes Mellitus | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0376358 | Malignant neoplasm of prostate | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0017205 | Gaucher Disease | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002881 | Anemia, Hemolytic, Congenital | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0032461 | Polycythemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0009404 | Colorectal Neoplasms | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0020074 | HSAN Type IV | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0009402 | Colorectal Carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0338508 | Optic Atrophy 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0020456 | Hyperglycemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0011849 | Diabetes Mellitus | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1855553 | Pyruvate Dehydrogenase E3-Binding Protein Deficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0037772 | Spastic Paraplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0346647 | Malignant neoplasm of pancreas | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0027651 | Neoplasms | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0740457 | Malignant neoplasm of kidney | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0342276 | Maturity onset diabetes mellitus in young | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0008312 | Primary biliary cirrhosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1335168 | Ovarian mucinous tumor | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
