Gene: MYH2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4620
Gene Symbol: MYH2
MYH2 		0.130 GeneticVariation group BEFREE HIBM with congenital joint contractures and external ophthalmoplegia is due to mutations of the Myosin Heavy Chain IIa gene that exerts a pathogenic effect through interference with filament assembly or functional defects in ATPase activity. 25149037 2015
Entrez Id: 4620
Gene Symbol: MYH2
MYH2 		0.130 GeneticVariation group BEFREE A myopathy associated with a specific mutation in MYH2 is associated with congenital joint contractures and external ophthalmoplegia. 19181095 2008
Entrez Id: 4620
Gene Symbol: MYH2
MYH2 		0.130 GeneticVariation group BEFREE A myopathy associated with a specific mutation in MYH2 is associated with congenital joint contractures and external ophthalmoplegia. 17434305 2007
Entrez Id: 4620
Gene Symbol: MYH2
MYH2 		0.130 Biomarker group HPO