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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 |
|---|---|---|---|---|---|
| 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 |
| C0020619 | Hypogonadism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0848558 | Hypospadias | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0343641 | Human papilloma virus infection | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0006826 | Malignant Neoplasms | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C1306459 | Primary malignant neoplasm | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0025958 | Microcephaly | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0027651 | Neoplasms | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0036341 | Schizophrenia | PIP4K2C | 79837 | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma | Q8TBX8 |
| C1306459 | Primary malignant neoplasm | PIP4K2C | 79837 | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma | Q8TBX8 |
| C0686347 | Tardive Dyskinesia | PIP4K2C | 79837 | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma | Q8TBX8 |
| C0006826 | Malignant Neoplasms | PIP4K2C | 79837 | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma | Q8TBX8 |
| C0006142 | Malignant neoplasm of breast | PIP4K2C | 79837 | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma | Q8TBX8 |
