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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 |
|---|---|---|---|---|---|
| C0003507 | Aortic Valve Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
| C0013080 | Down Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0020302 | Hydrophthalmos | ARSD | 414 | arylsulfatase D | P51689 |
| C0032897 | Prader-Willi Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0236792 | Asperger Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0023467 | Leukemia, Myelocytic, Acute | ARSD | 414 | arylsulfatase D | P51689 |
| C0149630 | Bicuspid aortic valve | ARSD | 414 | arylsulfatase D | P51689 |
| C0032460 | Polycystic Ovary Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C2981140 | Glaucoma of childhood | ARSD | 414 | arylsulfatase D | P51689 |
| C0018801 | Heart failure | ARSD | 414 | arylsulfatase D | P51689 |
| C1856113 | Mowat-Wilson syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0018799 | Heart Diseases | ARSD | 414 | arylsulfatase D | P51689 |
| C0035372 | Rett Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0007194 | Hypertrophic Cardiomyopathy | ARSD | 414 | arylsulfatase D | P51689 |
| C0152227 | Excessive tearing | ARSD | 414 | arylsulfatase D | P51689 |
| C0014116 | Endocardial Cushion Defects | ARSD | 414 | arylsulfatase D | P51689 |
| C0270972 | Cornelia De Lange Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C1136249 | Mental Retardation, X-Linked | ARSD | 414 | arylsulfatase D | P51689 |
| C1956257 | Pulmonary Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
| C0043202 | Wolff-Parkinson-White Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0026709 | Mucopolysaccharidosis VI | ARSB | 411 | arylsulfatase B | P15848 |
| C1306459 | Primary malignant neoplasm | ARSB | 411 | arylsulfatase B | P15848 |
| C0010674 | Cystic Fibrosis | ARSB | 411 | arylsulfatase B | P15848 |
| C0023522 | Leukodystrophy, Metachromatic | ARSB | 411 | arylsulfatase B | P15848 |
| C0027059 | Myocarditis | ARSB | 411 | arylsulfatase B | P15848 |
