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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 |
| C0020538 | Hypertensive disease | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0235527 | Heart Failure, Right-Sided | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C2239176 | Liver carcinoma | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C2939447 | Right ventricular failure | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0009691 | Congenital cataract | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0011849 | Diabetes Mellitus | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0524620 | Metabolic Syndrome X | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C2675528 | Spastic Paraplegia 42, Autosomal Dominant | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0001418 | Adenocarcinoma | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0004096 | Asthma | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0003850 | Arteriosclerosis | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
