Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.450 Biomarker GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288

2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.450 Biomarker GENOMICS_ENGLAND Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546

2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.450 Biomarker GENOMICS_ENGLAND Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529

2000