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 |
---|---|---|---|---|---|
C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0270786 | Binswanger Disease | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0038379 | Strabismus | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0027766 | Nervous System Neoplasms | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0006118 | Brain Neoplasms | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0029124 | Optic Atrophy | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0036857 | Severe intellectual disability | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0236018 | Aura | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C1621958 | Glioblastoma Multiforme | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C3888081 | L-2-hydroxyglutaric acidemia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0014038 | Encephalitis | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C1384666 | hearing impairment | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C0524851 | Neurodegenerative Disorders | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
C1168401 | Squamous cell carcinoma of the head and neck | JMJD7-PLA2G4B | 8681 | JMJD7-PLA2G4B readthrough | P0C869 |
C0027651 | Neoplasms | IZUMO1R | 390243 | IZUMO1 receptor, JUNO | A6ND01 |
C0024117 | Chronic Obstructive Airway Disease | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0268275 | Tay-Sachs Disease, AB Variant | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0003467 | Anxiety | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0268274 | Gangliosidoses, GM2 | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0036572 | Seizures | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0026847 | Spinal Muscular Atrophy | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0006142 | Malignant neoplasm of breast | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0235946 | Cerebral atrophy | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C1442826 | Neonatal necrotizing enterocolitis | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0877024 | Schimke immunoosseous dysplasia | GM2A | 2760 | GM2 ganglioside activator | P17900 |
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Last updated: August 19, 2024