SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 GeneticVariation phenotype BEFREE Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia. 25870456 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 Biomarker phenotype BEFREE We analyzed the SLC2A1 gene in 12 Japanese Glut1-DS patients who were diagnosed by characteristic clinical symptoms and hypoglycorrhachia as follows: all patients had infantile-onset seizures and mild to severe developmental delay, and ataxia was detected in 11 patients. 22011817 2011
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 Biomarker phenotype BEFREE Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. 19515520 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 Biomarker phenotype HPO