LMOD1, leiomodin 1, 25802

N. diseases: 49; N. variants: 10
Disease: Abnormality of the bladder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149632
Disease: Abnormality of the bladder
Abnormality of the bladder 		0.100 CausalMutation phenotype CLINVAR Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 28292896 2017