MYH10, myosin heavy chain 10, 4628

N. diseases: 31; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
0.010 GeneticVariation group BEFREE Complementation testing confirmed that the Myh10 mutation causes the EHC phenotype. 29084269 2017