Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. 18479388

2008
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. 11245985

2001
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 20351042

2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. 20346423

2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. 17386050

2007
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696

2009
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain. 20006674

2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genotype phenotype associations across the voltage-gated sodium channel family. 25163687

2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012