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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 |
|---|---|---|---|---|---|
| C1384666 | hearing impairment | CTSA | 5476 | cathepsin A | P10619 |
| C1838577 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | CTSA | 5476 | cathepsin A | P10619 |
| C0278601 | Inflammatory Breast Carcinoma | CTSA | 5476 | cathepsin A | P10619 |
| C0242172 | Pelvic Inflammatory Disease | CTSA | 5476 | cathepsin A | P10619 |
| C0020456 | Hyperglycemia | CTSA | 5476 | cathepsin A | P10619 |
| C0029422 | Osteochondrodysplasias | CTSA | 5476 | cathepsin A | P10619 |
| C0086795 | Pfaundler-Hurler Syndrome | CTSA | 5476 | cathepsin A | P10619 |
| C0235946 | Cerebral atrophy | PIGG | 54872 | phosphatidylinositol glycan anchor biosynthesis class G | Q5H8A4 |
| C0015934 | Fetal Growth Retardation | PIGG | 54872 | phosphatidylinositol glycan anchor biosynthesis class G | Q5H8A4 |
| C0036572 | Seizures | PIGG | 54872 | phosphatidylinositol glycan anchor biosynthesis class G | Q5H8A4 |
| C3714756 | Intellectual Disability | PIGG | 54872 | phosphatidylinositol glycan anchor biosynthesis class G | Q5H8A4 |
| C0025202 | melanoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0017636 | Glioblastoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C1621958 | Glioblastoma Multiforme | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0017638 | Glioma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0278878 | Adult Glioblastoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0400966 | Non-alcoholic Fatty Liver Disease | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C1956346 | Coronary Artery Disease | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0027051 | Myocardial Infarction | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0742343 | Acute Chest Syndrome | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C1510586 | Autism Spectrum Disorders | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C2239176 | Liver carcinoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0238463 | Papillary thyroid carcinoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C0018818 | Ventricular Septal Defects | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
