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
Displaying entries 57051 - 57075 of 62743 in total
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