Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 CausalMutation disease CLINVAR CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities. 28917552 2018
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 15673802 2005
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 CausalMutation disease CLINVAR Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome. 15611370 2005
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 CausalMutation disease CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619 2004
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 GeneticVariation disease UNIPROT Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. 11827995 2002
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 CausalMutation disease CLINVAR Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. 11827995 2002
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 CausalMutation disease CLINVAR Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. 11407343 2001
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 GeneticVariation disease UNIPROT Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. 11371514 2001
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Incidence of recurrent herpes labialis and upper respiratory infection: a prospective study of the influence of biologic, social and psychologic predictors. 194200 1977
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND