MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: ARTERIAL TORTUOSITY SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		0.010 GeneticVariation disease BEFREE The paternal COL4A5 mutation seems to account for the complete phenotype of ATS in the father and the maternal mutation in MYH9 for the inner ear deafness in the mother. 23144074 2012