MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Familial Hypertrophic Cardiomyopathy Type 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515990
rs397515990
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		C 0.700 GeneticVariation CLINVAR Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. 22115648 2011
dbSNP: rs397515990
rs397515990
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		C 0.700 GeneticVariation CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798 2010
dbSNP: rs397515990
rs397515990
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1861862
Disease:
Familial Hypertrophic Cardiomyopathy Type 4 		C 0.700 CausalMutation CLINVAR