Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 Biomarker disease CLINGEN Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome. 28119822 2017
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1. 28018440 2016
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome. 27351150 2016
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. 26615598 2016
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 GeneticVariation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 Biomarker disease CLINGEN From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382 2015
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494 2015
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382 2015
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 GeneticVariation disease CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382 2015
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR The many faces of Glut1 deficiency syndrome. 23340081 2014
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome. 24080273 2013
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. 23448551 2013
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. 23106342 2012
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 GeneticVariation disease CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 GeneticVariation disease CLINVAR Allelic variations of glut-1 deficiency syndrome: the chinese experience. 22704013 2012
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796 2012
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Allelic variations of glut-1 deficiency syndrome: the chinese experience. 22704013 2012
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 21832227 2011
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 GeneticVariation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 CausalMutation disease CLINVAR """Benign"" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency." 21865127 2011
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.400 GeneticVariation disease CLINVAR Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 20687207 2010