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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 ▼ |
|---|---|---|---|---|---|
| C0002986 | Fabry Disease | CTSA | 5476 | cathepsin A | P10619 |
| C0010038 | Corneal Opacity | CTSA | 5476 | cathepsin A | P10619 |
| C0019693 | HIV Infections | CTSA | 5476 | cathepsin A | P10619 |
| C3714636 | Pneumonitis | CTSA | 5476 | cathepsin A | P10619 |
| C0019348 | Herpes Simplex Infections | CTSA | 5476 | cathepsin A | P10619 |
| C0013336 | Dwarfism | CTSA | 5476 | cathepsin A | P10619 |
| C0006826 | Malignant Neoplasms | CTSA | 5476 | cathepsin A | P10619 |
| C3714756 | Intellectual Disability | CTSA | 5476 | cathepsin A | P10619 |
| C0162871 | Aortic Aneurysm, Abdominal | CTSA | 5476 | cathepsin A | P10619 |
| C0009402 | Colorectal Carcinoma | CTSA | 5476 | cathepsin A | P10619 |
| C1306459 | Primary malignant neoplasm | CTSA | 5476 | cathepsin A | P10619 |
| C0268228 | Neuraminidase 1 deficiency | CTSA | 5476 | cathepsin A | P10619 |
| C0013371 | Shigella Infections | CTSA | 5476 | cathepsin A | P10619 |
| 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 |
| C0393588 | Dystonia, Paroxysmal | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0024141 | Lupus Erythematosus, Systemic | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0008312 | Primary biliary cirrhosis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C1855565 | Pyruvate Dehydrogenase E2 Deficiency | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C4721555 | Autoimmune hepatitis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
