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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 |
|---|---|---|---|---|---|
| C1621958 | Glioblastoma Multiforme | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0042798 | Low Vision | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0006118 | Brain Neoplasms | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0028064 | Niemann-Pick Diseases | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0017921 | Glycogen storage disease type II | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C2697932 | Loeys-Dietz Syndrome | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0029456 | Osteoporosis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0750901 | Alzheimer Disease, Early Onset | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026697 | Mucolipidoses | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C2239176 | Liver carcinoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026266 | Mitral Valve Insufficiency | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0023530 | Leukopenia | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C3203102 | Idiopathic pulmonary arterial hypertension | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0036439 | Scoliosis, unspecified | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0003507 | Aortic Valve Stenosis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0027947 | Neutropenia | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0004936 | Mental disorders | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0085132 | Mucopolysaccharidosis VII | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0549473 | Thyroid carcinoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0079748 | Precursor cell lymphoblastic lymphoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C3714756 | Intellectual Disability | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C1384666 | hearing impairment | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0276496 | Familial Alzheimer Disease (FAD) | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0007789 | Cerebral Palsy | IDUA | 3425 | alpha-L-iduronidase | P35475 |
