TCAP, titin-cap, 8557

N. diseases: 6; N. variants: 11
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		0.800 CausalMutation disease CLINVAR
CUI: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		0.800 GeneticVariation disease CLINVAR
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.600 GeneticVariation disease CLINVAR
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.600 CausalMutation disease CLINVAR
CUI: C0026848
Disease: Myopathy
Myopathy 		0.120 GeneticVariation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 GeneticVariation group CLINVAR Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 10655062 2000
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 CausalMutation phenotype CLINVAR
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation disease CLINVAR
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation disease CLINVAR