SNTA1, syntrophin alpha 1, 6640

N. diseases: 45; N. variants: 6
Disease: Long Qt Syndrome 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		0.700 GeneticVariation disease UNIPROT Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 18591664 2008
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		0.700 Biomarker disease GENOMICS_ENGLAND alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. 19684871 2008
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		0.700 GeneticVariation disease UNIPROT alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. 19684871 2008
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		0.700 Biomarker disease CTD_human
CUI: C2751830
Disease: Long Qt Syndrome 12
Long Qt Syndrome 12 		0.700 CausalMutation disease CLINVAR