Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		0.100 Biomarker disease HPO
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		0.100 Biomarker disease HPO
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3 		0.010 GeneticVariation disease BEFREE Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding transmembrane and tetratricopeptide repeat containing 3, in four siblings with nocturnal seizures and ID. 28973161 2017
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.010 GeneticVariation disease BEFREE Recently, a point mutation (alpha2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. 19383498 2009