Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.050 GeneticVariation 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
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.050 GeneticVariation 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
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.050 GeneticVariation 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
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.050 GeneticVariation 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
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.050 GeneticVariation LHGDN MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 17336526

2007