Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 Biomarker disease MGD Pathogenesis of depression- and anxiety-like behavior in an animal model of hypertrophic cardiomyopathy. 28235781 2017
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 Biomarker disease MGD In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene. 26304555 2015
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 GeneticVariation disease UNIPROT A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. 19439414 2009
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 GeneticVariation disease UNIPROT Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 18572189 2008
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 GeneticVariation disease UNIPROT Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 GeneticVariation disease UNIPROT First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 11385718 2001
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 GeneticVariation disease CLINVAR
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 CausalMutation disease CLINVAR
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 13 		0.900 Biomarker disease CTD_human
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 GeneticVariation disease UNIPROT Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288 2004
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 CausalMutation disease CLINVAR
CUI: C2678475
Disease: Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 1z 		0.700 Biomarker disease CTD_human
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation disease BEFREE Characterization of the L29Q Hypertrophic Cardiomyopathy Mutation in Cardiac Troponin C by Paramagnetic Relaxation Enhancement Nuclear Magnetic Resonance. 30620548 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation disease BEFREE We used a murine model of hypertrophic cardiomyopathy (HCM) harboring a cardiac troponin C (cTnC) Ca<sup>2+</sup>-sensitizing mutation, Ala8Val in the regulatory N-domain. 30138628 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation disease CLINVAR Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation. 28473771 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation disease BEFREE Therefore, we reconstituted rabbit soleus fibers and bovine masseter myofibrils with mutant cTnCs (A8V, C84Y, E134D, and D145E) associated with HCM to investigate their effects on contractile force and ATPase rates, respectively. 28473771 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation disease CLINVAR Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations. 28533433 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation disease BEFREE Here, we used high-resolution electron-spray ionization mass spectrometry (ESI-MS), Carr-Purcell-Meiboom-Gill relaxation dispersion (CPMG-RD), and affinity measurements of cTnC for the thin filament in reconstituted papillary muscles to provide evidence of an allosteric mechanism in mutant cTnC that may play a role to the HCM phenotype. 28049727 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation disease CLINVAR Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C. 26976709 2016