rs727504245, TNNT2

N. diseases: 4
Disease: Cardiomyopathy, Familial Hypertrophic, 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
0.800 GeneticVariation CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
Cardiomyopathy, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
0.800 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Cardiomyopathy, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
0.800 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
Cardiomyopathy, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
0.800 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
Cardiomyopathy, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010 2011
Cardiomyopathy, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
0.800 GeneticVariation CLINVAR Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. 9140840 1997