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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 |
|---|---|---|---|---|---|
| C0023467 | Leukemia, Myelocytic, Acute | PGS1 | 9489 | phosphatidylglycerophosphate synthase 1 | Q32NB8 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C0029442 | Osteomalacia | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C3887650 | Adult Rickets | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C1306459 | Primary malignant neoplasm | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0006826 | Malignant Neoplasms | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0006142 | Malignant neoplasm of breast | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0079504 | Hermanski-Pudlak Syndrome | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0017636 | Glioblastoma | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0023418 | leukemia | PI4K2B | 55300 | phosphatidylinositol 4-kinase type 2 beta | Q8TCG2 |
| C0005586 | Bipolar Disorder | PI4K2B | 55300 | phosphatidylinositol 4-kinase type 2 beta | Q8TCG2 |
| C0036341 | Schizophrenia | PI4K2B | 55300 | phosphatidylinositol 4-kinase type 2 beta | Q8TCG2 |
| C1332977 | Childhood Leukemia | PI4K2B | 55300 | phosphatidylinositol 4-kinase type 2 beta | Q8TCG2 |
| C1263846 | Attention deficit hyperactivity disorder | PI4K2B | 55300 | phosphatidylinositol 4-kinase type 2 beta | Q8TCG2 |
| C0023473 | Myeloid Leukemia, Chronic | PI4K2B | 55300 | phosphatidylinositol 4-kinase type 2 beta | Q8TCG2 |
| C0004936 | Mental disorders | PI4K2B | 55300 | phosphatidylinositol 4-kinase type 2 beta | Q8TCG2 |
| C0036341 | Schizophrenia | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0019196 | Hepatitis C | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0004936 | Mental disorders | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C1837355 | Leukodystrophy, Hypomyelinating, 2 | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0002871 | Anemia | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0027651 | Neoplasms | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C1836033 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0600139 | Prostate carcinoma | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0002395 | Alzheimer's Disease | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
