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 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 Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. 15249644

2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894

2004
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Evolutionary convergence of alternative splicing in ion channels. 15101391

2004
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 Evolution and diversity of mammalian sodium channel genes. 10198179

1999
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. 1325650

1992
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs. 1658739

1991
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex. 1658783

1991
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR