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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 |
|---|---|---|---|---|---|
| C0700345 | Candidiasis, Vulvovaginal | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0524851 | Neurodegenerative Disorders | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0008489 | Chorea | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0497327 | Dementia | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0036161 | Sandhoff Disease | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C4082937 | Necrotizing enterocolitis in fetus OR newborn | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0456909 | Blindness | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0001973 | Alcoholic Intoxication, Chronic | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C1306459 | Primary malignant neoplasm | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0206695 | Carcinoma, Neuroendocrine | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0039373 | Tay-Sachs Disease | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0678222 | Breast Carcinoma | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0013421 | Dystonia | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0035309 | Retinal Diseases | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0013336 | Dwarfism | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0028043 | Nicotine Dependence | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0006826 | Malignant Neoplasms | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0026850 | Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3809216 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0520947 | Clumsiness - motor delay | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0086543 | Cataract | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0008925 | Cleft Palate | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0026848 | Myopathy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
