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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 |
|---|---|---|---|---|---|
| C0014070 | Encephalomyelitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4721453 | Peripheral Nervous System Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| 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 |
| C0013336 | Dwarfism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0019294 | Hernia, Inguinal | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0015469 | Facial paralysis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C2930865 | Ramer Ladda syndrome | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0221182 | Chordee | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0010417 | Cryptorchidism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0025988 | Microglossia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0002395 | Alzheimer's Disease | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0011351 | Dental Enamel Hypoplasia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0020255 | Hydrocephalus | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0029454 | Osteopetrosis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
