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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 ▼ |
|---|---|---|---|---|---|
| C0265535 | Trigonocephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1458155 | Mammary Neoplasms | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0015934 | Fetal Growth Retardation | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0029124 | Optic Atrophy | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0001125 | Acidosis, Lactic | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0013274 | Patent ductus arteriosus | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0025517 | Metabolic Diseases | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0426970 | Spastic Quadriplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1319315 | Adenocarcinoma of large intestine | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0023892 | Biliary cirrhosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0025958 | Microcephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0085110 | Severe Combined Immunodeficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0085584 | Encephalopathies | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0006142 | Malignant neoplasm of breast | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0007103 | Malignant neoplasm of endometrium | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0006826 | Malignant Neoplasms | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0005695 | Bladder Neoplasm | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0035335 | Retinoblastoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0024299 | Lymphoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4721610 | Carcinoma, Ovarian Epithelial | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1332206 | Adult Lymphoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0007131 | Non-Small Cell Lung Carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0346360 | Malignant melanoma of conjunctiva | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0600139 | Prostate carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
