Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). 29170849 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. 30166250 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. 28927399 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. 27519903 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. 27469267 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. 27282841 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. 25447691 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE We describe three members of a family with an autosomal dominant mutation in the distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] displaying a complex phenotype characterized by Laing Distal Myopathy like phenotype, left ventricular non compaction cardiomyopathy and Fiber Type Disproportion picture at muscle biopsy. 25576864 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. 24300783 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE To identify the causative abnormality whole exome sequencing was performed in two affected girls and their unaffected father, unexpectedly revealing the MYH7 mutation c.4849_4851delAAG (p.K1617del) in both girls, reported to be causative for Laing distal myopathy. 24300783 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE These observations expand the clinical spectrum of LDM with the MYH7 mutation. 23707328 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/β cardiac MyHC (MYH7). 22918376 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. 23478172 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Mutations in the MYH7 gene encoding for the β-myosin heavy chain are the underlying genetic cause of MPD1. 22155079 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Human distal myopathy type 1 (MPD1), a disease partially resembling CPS in pigs, has been associated with mutations in the MYH7 gene. 23153285 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. 21279644 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE We report the first molecularly verified Laing distal myopathy in a French family caused by a novel p.Glu1508del mutation in the MYH7 gene. 21279644 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. 20733148 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645 2009