Gene: HCN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.130 GeneticVariation disease BEFREE In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. 30351409 2018
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.130 GeneticVariation disease BEFREE These data represent the first evidence that autosomal dominant missense mutations of HCN1 can also be involved in GGE, without the characteristics of epileptic encephalopathy reported previously. 29936235 2018
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.130 GeneticVariation disease BEFREE These findings provide clear evidence that de novo HCN1 point mutations cause a recognizable early-onset epileptic encephalopathy in humans. 24747641 2014
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.130 GeneticVariation disease CLINVAR
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.130 Biomarker disease HPO