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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 ▲ |
|---|---|---|---|---|---|
| C0206716 | Ganglioglioma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0022650 | Kidney Calculi | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0023461 | Leukemia, Mast-Cell | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0085261 | Proteus Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0039483 | Giant Cell Arteritis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| 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 |
| C0020459 | Hyperinsulinism | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0235974 | Pancreatic carcinoma | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C3714756 | Intellectual Disability | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0020456 | Hyperglycemia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0220981 | Metabolic acidosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0281361 | Adenocarcinoma of pancreas | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0011847 | Diabetes | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0887833 | Carcinoma, Pancreatic Ductal | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0158981 | Neonatal diabetes mellitus | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
