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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 |
|---|---|---|---|---|---|
| C0221023 | Cyclic neutropenia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0262655 | Recurrent urinary tract infection | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0699790 | Colon Carcinoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1332206 | Adult Lymphoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0039101 | synovial sarcoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0002875 | Cooley's anemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C1306459 | Primary malignant neoplasm | PC | 5091 | pyruvate carboxylase | P11498 |
| C0010068 | Coronary heart disease | PC | 5091 | pyruvate carboxylase | P11498 |
| C1861172 | Venous Thromboembolism | PC | 5091 | pyruvate carboxylase | P11498 |
| C0020456 | Hyperglycemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PC | 5091 | pyruvate carboxylase | P11498 |
| C0268553 | Hyperlysinemias | PC | 5091 | pyruvate carboxylase | P11498 |
| C0311370 | Lupus anticoagulant disorder | PC | 5091 | pyruvate carboxylase | P11498 |
| C0006142 | Malignant neoplasm of breast | PC | 5091 | pyruvate carboxylase | P11498 |
| C0153452 | Malignant neoplasm of gallbladder | PC | 5091 | pyruvate carboxylase | P11498 |
| C0034341 | Pyruvate Carboxylase Deficiency Disease | PC | 5091 | pyruvate carboxylase | P11498 |
| C3714756 | Intellectual Disability | PC | 5091 | pyruvate carboxylase | P11498 |
| C0085650 | Purpura Fulminans | PC | 5091 | pyruvate carboxylase | P11498 |
| C0003850 | Arteriosclerosis | PC | 5091 | pyruvate carboxylase | P11498 |
| C0041296 | Tuberculosis | PC | 5091 | pyruvate carboxylase | P11498 |
| C0004153 | Atherosclerosis | PC | 5091 | pyruvate carboxylase | P11498 |
| C0007131 | Non-Small Cell Lung Carcinoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0678222 | Breast Carcinoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0079731 | B-Cell Lymphomas | PC | 5091 | pyruvate carboxylase | P11498 |
| C0007222 | Cardiovascular Diseases | PC | 5091 | pyruvate carboxylase | P11498 |
