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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 ▲ |
|---|---|---|---|---|---|
| C0271270 | Oculovestibuloauditory syndrome | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C1856689 | FRIEDREICH ATAXIA 1 | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0005684 | Malignant neoplasm of urinary bladder | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C2239176 | Liver carcinoma | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0027092 | Myopia | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0016719 | Friedreich Ataxia | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0002395 | Alzheimer's Disease | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C3714756 | Intellectual Disability | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C1168401 | Squamous cell carcinoma of the head and neck | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0023890 | Liver Cirrhosis | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0028738 | Nystagmus | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0027651 | Neoplasms | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0699791 | Stomach Carcinoma | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0024623 | Malignant neoplasm of stomach | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0006826 | Malignant Neoplasms | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0029456 | Osteoporosis | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C1306459 | Primary malignant neoplasm | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0005695 | Bladder Neoplasm | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0494475 | Tonic - clonic seizures | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0038220 | Status Epilepticus | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0007137 | Squamous cell carcinoma | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0013080 | Down Syndrome | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0005586 | Bipolar Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3809824 | PARKINSON DISEASE 20, EARLY-ONSET | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0025958 | Microcephaly | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
