MYH11, myosin heavy chain 11, 4629

N. diseases: 161; N. variants: 25
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205435
rs786205435
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C1608393
Disease:
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.010 GeneticVariation BEFREE We performed exome sequencing in a newborn with MMIHS and prune belly phenotype whose parents are consanguineous and identified a homozygous variant (c.3598A>T: p.Lys1200Ter) in MYH11, which codes for the smooth muscle myosin heavy chain. 25407000 2015