Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632 2015
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632 2015
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875 2013
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 GeneticVariation CLINVAR