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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 ▲ |
|---|---|---|---|---|---|
| C0205700 | Asymmetric Septal Hypertrophy | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0086649 | MPS III C | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0019572 | Hirsutism | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0341106 | Eosinophilic esophagitis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C4048196 | beta-Mannosidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0036391 | Schwartz-Jampel Syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0524851 | Neurodegenerative Disorders | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0024117 | Chronic Obstructive Airway Disease | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C3714756 | Intellectual Disability | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0003125 | Anorexia Nervosa | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1384666 | hearing impairment | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1306459 | Primary malignant neoplasm | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0878544 | Cardiomyopathies | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | ARSD | 414 | arylsulfatase D | P51689 |
| C0032897 | Prader-Willi Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C3714756 | Intellectual Disability | ARSD | 414 | arylsulfatase D | P51689 |
| C0009460 | Communication impairment | ARSD | 414 | arylsulfatase D | P51689 |
| C0028754 | Obesity | ARSD | 414 | arylsulfatase D | P51689 |
| C0004930 | Behavior Disorders | ARSD | 414 | arylsulfatase D | P51689 |
| C0020302 | Hydrophthalmos | ARSD | 414 | arylsulfatase D | P51689 |
| C0026010 | Microphthalmos | ARSD | 414 | arylsulfatase D | P51689 |
| C0014116 | Endocardial Cushion Defects | ARSD | 414 | arylsulfatase D | P51689 |
| C0023487 | Acute Promyelocytic Leukemia | ARSD | 414 | arylsulfatase D | P51689 |
| C0014121 | Bacterial Endocarditis | ARSD | 414 | arylsulfatase D | P51689 |
