SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.800 CausalMutation disease CLINVAR Paroxysmal movement disorders in GLUT1 deficiency syndrome. 18606970 2008
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.750 CausalMutation disease CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116 2014
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.750 CausalMutation disease CLINVAR Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.750 GeneticVariation disease CLINVAR
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		0.710 CausalMutation disease CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116 2014
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		0.710 GeneticVariation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.700 CausalMutation phenotype CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		0.700 CausalMutation disease CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116 2014
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.700 CausalMutation phenotype CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.700 CausalMutation phenotype CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. 17052934 2007
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075 2002
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C0036572
Disease: Seizures
Seizures 		0.700 GeneticVariation phenotype CLINVAR
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		0.700 GeneticVariation disease CLINVAR
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease CLINVAR
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.600 CausalMutation disease CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116 2014
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.600 GeneticVariation disease CLINVAR