SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE We analysed all three genes (the whole coding regions of SLC2A1 and PRRT2 and exons one and two of PNKD) in a series of 145 families with paroxysmal dyskinesias as well as in a series of 53 patients with familial episodic ataxia and hemiplegic migraine to investigate the mutation frequency and type and the genetic and phenotypic spectrum. 26598494 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. 22282645 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE PED is genetically heterogenous, but a number of familial and sporadic cases may be due to GLUT-1 gene mutations. 21626559 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 Biomarker disease BEFREE Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 GeneticVariation disease BEFREE The present study does not support the hypothesis that genetic variation within the GLUT1 or GLUT4 gene loci may be responsible for familial susceptibility to Type 2 diabetes. 1348023 1992