LMOD1, leiomodin 1, 25802

N. diseases: 49; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266200
Disease: Microcolon
Microcolon
0.100 CausalMutation disease CLINVAR Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 28292896 2017
CUI: C0266200
Disease: Microcolon
Microcolon
0.100 Biomarker disease HPO