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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 |
|---|---|---|---|---|---|
| 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 |
| C2931187 | Nephropathic cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C4316899 | Cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0268626 | Juvenile nephropathic cystinosis (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015624 | Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2931013 | Cystinosis, benign, nonnephropathic | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0235946 | Cerebral atrophy | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085078 | Lysosomal Storage Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0030567 | Parkinson Disease | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0341703 | Adult Fanconi syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1565489 | Renal Insufficiency | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0022658 | Kidney Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2749685 | CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0035309 | Retinal Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
