SNTA1, syntrophin alpha 1, 6640

N. diseases: 45; N. variants: 6
Disease: Syncope ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039070
Disease: Syncope
Syncope 		0.120 GeneticVariation phenotype BEFREE A Caucasian family with syncope and marginally prolonged QT interval was screened for LQTS-susceptibility genes and found to harbor the R800L mutation in SCN5A and A261V mutation in SNTA1, and those with both mutations had the strongest clinical phenotype. 23376825 2013
CUI: C0039070
Disease: Syncope
Syncope 		0.120 GeneticVariation phenotype BEFREE A missense mutation (A390V-SNTA1) was found in a patient with recurrent syncope and markedly prolonged QT interval (QTc, 530 ms). 18591664 2008
CUI: C0039070
Disease: Syncope
Syncope 		0.120 Biomarker phenotype HPO