rs3218716, MYH7

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296 1999
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. 11186938 2000
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. 7581410 1995
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 CausalMutation CLINVAR
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407 2008
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Child abuse and neglect: a study of cases reported to Douglas County Child Protective Service from 1967-1973. 1186938 1975
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028 2004
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. 7581410 1995
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 19880069 2009
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296 1999
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. 11186938 2000
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407 2008
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961 2014
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028 2004
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
Lymphopenia
CUI: C0024312
Disease: Lymphopenia
0.700 GeneticVariation CLINVAR
X-Linked Emery-Dreifuss Muscular Dystrophy
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
0.700 CausalMutation CLINVAR
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
0.700 CausalMutation CLINVAR
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Wolff-Parkinson-White Syndrome
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
0.700 GeneticVariation CLINVAR
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013