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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 ▲ |
|---|---|---|---|---|---|
| C0008489 | Chorea | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0751495 | Seizures, Focal | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0036857 | Severe intellectual disability | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0021400 | Influenza | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0520947 | Clumsiness - motor delay | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0007102 | Malignant tumor of colon | PLA2G3 | 50487 | phospholipase A2 group III | Q9NZ20 |
| C1306459 | Primary malignant neoplasm | PLA2G3 | 50487 | phospholipase A2 group III | Q9NZ20 |
| C0699790 | Colon Carcinoma | PLA2G3 | 50487 | phospholipase A2 group III | Q9NZ20 |
| C0027051 | Myocardial Infarction | PLA2G3 | 50487 | phospholipase A2 group III | Q9NZ20 |
| C0027651 | Neoplasms | PLA2G3 | 50487 | phospholipase A2 group III | Q9NZ20 |
| C0019196 | Hepatitis C | GLTP | 51228 | glycolipid transfer protein | Q9NZD2 |
| C0699790 | Colon Carcinoma | GLTP | 51228 | glycolipid transfer protein | Q9NZD2 |
| C0009402 | Colorectal Carcinoma | GLTP | 51228 | glycolipid transfer protein | Q9NZD2 |
| C0013595 | Eczema | PLA2G2E | 30814 | phospholipase A2 group IIE | Q9NZK7 |
| C0024897 | Mastocytoma | PLA2G2E | 30814 | phospholipase A2 group IIE | Q9NZK7 |
| C2242987 | Benign Mastocytoma | PLA2G2E | 30814 | phospholipase A2 group IIE | Q9NZK7 |
| C0028754 | Obesity | PLA2G2E | 30814 | phospholipase A2 group IIE | Q9NZK7 |
| C0334664 | Mast Cell Neoplasm | PLA2G2E | 30814 | phospholipase A2 group IIE | Q9NZK7 |
| C0011615 | Dermatitis, Atopic | PLA2G2E | 30814 | phospholipase A2 group IIE | Q9NZK7 |
| C3714756 | Intellectual Disability | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0796206 | Atkin syndrome | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0028754 | Obesity | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0004352 | Autistic Disorder | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0034194 | Pyloric Stenosis | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C1136249 | Mental Retardation, X-Linked | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
