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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 |
|---|---|---|---|---|---|
| C0005411 | Biliary Atresia | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C2239176 | Liver carcinoma | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0026769 | Multiple Sclerosis | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0007570 | Celiac Disease | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0342276 | Maturity onset diabetes mellitus in young | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0036572 | Seizures | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0018801 | Heart failure | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0018802 | Congestive heart failure | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0010414 | Infection by Cryptococcus neoformans | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0085207 | Gestational Diabetes | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0015934 | Fetal Growth Retardation | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C1306459 | Primary malignant neoplasm | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C4520983 | Congenital atresia of extrahepatic bile duct | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0003493 | Aortic Diseases | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0003507 | Aortic Valve Stenosis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0432269 | Lenz Majewski hyperostotic dwarfism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C1851710 | LATERAL MENINGOCELE SYNDROME | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0036439 | Scoliosis, unspecified | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0010495 | Cutis Laxa | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0039075 | Syndactyly | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0015934 | Fetal Growth Retardation | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0008297 | Choanal Atresia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0004352 | Autistic Disorder | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C3714756 | Intellectual Disability | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
