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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 |
|---|---|---|---|---|---|
| C0376480 | Gingival Overgrowth | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0010038 | Corneal Opacity | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0017205 | Gaucher Disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0003504 | Aortic Valve Insufficiency | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0021390 | Inflammatory Bowel Diseases | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0520679 | Sleep Apnea, Obstructive | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0025362 | Mental Retardation | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0023434 | Chronic Lymphocytic Leukemia | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0242379 | Malignant neoplasm of lung | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0678222 | Breast Carcinoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0085576 | Iron-Refractory Iron Deficiency Anemia | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0007682 | CNS disorder | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0086652 | Mucopolysaccharidosis type IVB | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0023895 | Liver diseases | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0018784 | Sensorineural Hearing Loss (disorder) | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0270724 | Infantile Neuroaxonal Dystrophy | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C4721453 | Peripheral Nervous System Diseases | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0029124 | Optic Atrophy | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C1384666 | hearing impairment | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0004352 | Autistic Disorder | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0021400 | Influenza | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0002986 | Fabry Disease | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0006826 | Malignant Neoplasms | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
