Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.120 Biomarker phenotype BEFREE Phenotypic features not previously reported were seen; e.g. writer's cramp in SCA6; paroxysmal myoclonus in the glucose transporter protein type 1 (GLUT1) deficiency. 29524103 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.120 Biomarker phenotype BEFREE Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18]. 23893446 2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.120 CausalMutation phenotype CLINVAR
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.120 Biomarker phenotype HPO