Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.050 GeneticVariation phenotype BEFREE Here, we describe a patient with severe muscular weakness and skeletal deformity with de novo heterozygous MYH7 gene mutation. 31305444 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.050 GeneticVariation phenotype BEFREE De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion. 26782017 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.050 GeneticVariation phenotype BEFREE Laing distal myopathy (LDM) is caused by mutations in the MYH7 gene, and known to have muscle weakness of distal limbs and neck flexors. 23707328 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.050 GeneticVariation phenotype 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
0.050 GeneticVariation phenotype LHGDN MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 17336526 2007