TPM1, tropomyosin 1, 7168

N. diseases: 117; N. variants: 62
Disease: Apical hypertrophic cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732796
Disease: Apical hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy 		0.010 GeneticVariation disease BEFREE In contrast to prior publications suggesting a predilection for ACTC1/TPM1 mutations in patients with apical hypertrophic cardiomyopathy, the two most common genotypes (MYBPC3-HCM and MYH7-HCM) remained most common among patients who had a positive genetic test. 25495007 2016