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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 |
|---|---|---|---|---|---|
| C0001787 | Osteoporosis, Age-Related | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0409974 | Lupus Erythematosus | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0017636 | Glioblastoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1168401 | Squamous cell carcinoma of the head and neck | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0002880 | Autoimmune hemolytic anemia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0020179 | Huntington Disease | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0017083 | Gangliosidoses | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0700095 | Central neuroblastoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0678222 | Breast Carcinoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0029882 | Otitis Media | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1744558 | T-lymphocyte deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0019348 | Herpes Simplex Infections | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| 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 |
| C0684249 | Carcinoma of lung | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0009402 | Colorectal Carcinoma | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0878544 | Cardiomyopathies | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0558356 | Malignant melanoma of eye | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0400966 | Non-alcoholic Fatty Liver Disease | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0020757 | Ichthyoses | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0006826 | Malignant Neoplasms | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0241005 | Creatine phosphokinase serum increased | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0027651 | Neoplasms | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
