Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867587467
rs867587467
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. 26700687 2016
dbSNP: rs867587467
rs867587467
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy. 26427606 2015
dbSNP: rs867587467
rs867587467
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing. 26484179 2015
dbSNP: rs867587467
rs867587467
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108 2015
dbSNP: rs867587467
rs867587467
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277 2009
dbSNP: rs867587467
rs867587467
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation. 15482957 2004
dbSNP: rs867587467
rs867587467
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. 10944223 2000