rs13306758, SLC2A1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800 GeneticVariation CLINVAR
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800 GeneticVariation UNIPROT
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800 SusceptibilityMutation CLINVAR
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR The many faces of Glut1 deficiency syndrome. 23340081 2014
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796 2012
CHOREOATHETOSIS/SPASTICITY, EPISODIC
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
0.700 GeneticVariation CLINVAR
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
0.700 GeneticVariation CLINVAR
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation CLINVAR
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
0.700 GeneticVariation CLINVAR