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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 |
|---|---|---|---|---|---|
| C0019572 | Hirsutism | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0014518 | Toxic Epidermal Necrolysis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0028738 | Nystagmus | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0011991 | Diarrhea | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0270707 | Kluver-Bucy Syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C4048196 | beta-Mannosidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0205700 | Asymmetric Septal Hypertrophy | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0086649 | MPS III C | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0036572 | Seizures | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0003125 | Anorexia Nervosa | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0038013 | Ankylosing spondylitis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0007682 | CNS disorder | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0026848 | Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0175709 | Centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0024591 | Malignant hyperpyrexia due to anesthesia | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0027651 | Neoplasms | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0020224 | Polyhydramnios | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410207 | Tubular Aggregate Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0010417 | Cryptorchidism | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0005745 | Blepharoptosis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0162292 | External Ophthalmoplegia | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0004045 | Asphyxia Neonatorum | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0028754 | Obesity | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
