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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 |
|---|---|---|---|---|---|
| C0003873 | Rheumatoid Arthritis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0026010 | Microphthalmos | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0004364 | Autoimmune Diseases | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0032285 | Pneumonia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0520947 | Clumsiness - motor delay | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0268125 | Purine-nucleoside phosphorylase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0005695 | Bladder Neoplasm | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0023283 | Leishmaniasis, Cutaneous | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0006826 | Malignant Neoplasms | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0085110 | Severe Combined Immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0376358 | Malignant neoplasm of prostate | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0027819 | Neuroblastoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0027651 | Neoplasms | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0023374 | Lesch-Nyhan Syndrome | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0235974 | Pancreatic carcinoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0023434 | Chronic Lymphocytic Leukemia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1621958 | Glioblastoma Multiforme | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1306459 | Primary malignant neoplasm | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0023492 | Leukemia, T-Cell | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0524851 | Neurodegenerative Disorders | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0238462 | Medullary carcinoma of thyroid | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0079774 | Peripheral T-Cell Lymphoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0699885 | Carcinoma of bladder | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0027765 | nervous system disorder | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0024141 | Lupus Erythematosus, Systemic | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
