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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 |
|---|---|---|---|---|---|
| C0546264 | Congenital Fiber Type Disproportion | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0520947 | Clumsiness - motor delay | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0015469 | Facial paralysis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0345904 | Malignant neoplasm of liver | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410203 | X-linked centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0086647 | Mucopolysaccharidosis Type IIIA | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0026706 | Mucopolysaccharidosis III | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0026703 | Mucopolysaccharidoses | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0085078 | Lysosomal Storage Diseases | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0524851 | Neurodegenerative Disorders | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0086795 | Pfaundler-Hurler Syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0086650 | MPS III D | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0854723 | Retinal Dystrophies | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0341106 | Eosinophilic esophagitis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0035334 | Retinitis Pigmentosa | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0024117 | Chronic Obstructive Airway Disease | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0026650 | Movement Disorders | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0042571 | Vertigo | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0086648 | MPS III B | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C3714756 | Intellectual Disability | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0878544 | Cardiomyopathies | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0006826 | Malignant Neoplasms | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0036391 | Schwartz-Jampel Syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1285162 | Degenerative disorder | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1306459 | Primary malignant neoplasm | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
