Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 Biomarker BEFREE We found 36 probands who presented with an SCN8A-related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). 30968951

2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 GeneticVariation BEFREE We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or intellectual disability and autism without epilepsy (R1620L, A1622D). 30615093

2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 GeneticVariation BEFREE Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. 29726066

2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 GeneticVariation BEFREE Mutations in SCN8A are associated with epilepsy and intellectual disability. 26252990

2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 GeneticVariation BEFREE De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 25725044

2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 GeneticVariation BEFREE SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25785782

2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 GeneticVariation BEFREE Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810

2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 Biomarker CTD_human Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810

2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 Biomarker GENOMICS_ENGLAND

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 Biomarker HPO