Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 GeneticVariation disease BEFREE The comparison of the clinical features between the 19 SLC2A1 mutated and the 226 non-mutated patients revealed that the onset of epilepsy within the first year of life (when associated with developmental delay or other neurological manifestations), the association of epilepsy with PD and acquired microcephaly are more common in mutated subjects. 30895386 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 GeneticVariation disease BEFREE Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies. 25022942 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease BEFREE Glut 1 deficiency syndrome (DS) is defined by hypoglycorrhachia with normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to standard antiepileptic drugs (AEDs). 22812641 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 GeneticVariation disease BEFREE Glucose transporter type 1 deficiency syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe seizures, developmental delay, ataxia and acquired microcephaly. 22814174 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease BEFREE GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. 21366555 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease 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
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease BEFREE In humans, Glut-1 deficiency causes acquired microcephaly, seizures and ataxia, which are recapitulated in our Glut-1 haploinsufficient mouse model. 19591936 2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease BEFREE A GLUT-1 defect results in the Glucose-Transporter-Protein Syndrome (GTPS), characterized by infantile epilepsy, developmental delay, and acquired microcephaly. 10323476 1999
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.480 Biomarker disease HPO