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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 |
|---|---|---|---|---|---|
| C0024138 | Lupus Erythematosus, Discoid | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0025202 | melanoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0042373 | Vascular Diseases | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0162671 | MELAS Syndrome | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C2700553 | Omenn Syndrome | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1332979 | Childhood Lymphoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0238051 | Cerebral Angiitis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0031090 | Periodontal Diseases | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0024312 | Lymphopenia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0005684 | Malignant neoplasm of urinary bladder | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0086438 | Hypogammaglobulinemia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0021053 | Immune System Diseases | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0494261 | Combined immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0041296 | Tuberculosis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0007097 | Carcinoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C3714756 | Intellectual Disability | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0031099 | Periodontitis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1334647 | Maxillary Sinus Squamous Cell Carcinoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0003850 | Arteriosclerosis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0029456 | Osteoporosis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0021051 | Immunologic Deficiency Syndromes | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0268119 | Combined molybdoflavoprotein enzyme deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0546837 | Malignant neoplasm of esophagus | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
