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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 |
|---|---|---|---|---|---|
| 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 |
| C0162557 | Liver Failure, Acute | CD74 | 972 | CD74 molecule | P04233 |
| C0007138 | Carcinoma, Transitional Cell | CD74 | 972 | CD74 molecule | P04233 |
| C0678222 | Breast Carcinoma | CD74 | 972 | CD74 molecule | P04233 |
| C0917805 | Transient Cerebral Ischemia | CD74 | 972 | CD74 molecule | P04233 |
| C0021053 | Immune System Diseases | CD74 | 972 | CD74 molecule | P04233 |
| C1332556 | Biphasic Pulmonary Blastoma | CD74 | 972 | CD74 molecule | P04233 |
| C1458155 | Mammary Neoplasms | CD74 | 972 | CD74 molecule | P04233 |
| C0003850 | Arteriosclerosis | CD74 | 972 | CD74 molecule | P04233 |
| C0006826 | Malignant Neoplasms | CD74 | 972 | CD74 molecule | P04233 |
| C0023434 | Chronic Lymphocytic Leukemia | CD74 | 972 | CD74 molecule | P04233 |
| C1368683 | Epithelioma | CD74 | 972 | CD74 molecule | P04233 |
| C0015934 | Fetal Growth Retardation | CD74 | 972 | CD74 molecule | P04233 |
| C0023467 | Leukemia, Myelocytic, Acute | CD74 | 972 | CD74 molecule | P04233 |
| C0006142 | Malignant neoplasm of breast | CD74 | 972 | CD74 molecule | P04233 |
