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 ▼ |
---|---|---|---|---|---|
C0151313 | Sensory neuropathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0000768 | Congenital Abnormality | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0028738 | Nystagmus | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C1857276 | Trichohepatoenteric Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0009319 | Colitis | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
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 |
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Last updated: August 19, 2024