LMOD1, leiomodin 1, 25802

N. diseases: 49; N. variants: 10
Disease: Microcolon ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777696417
rs777696417
Entrez Id: 25802
Gene Symbol: LMOD1
LMOD1
CUI: C0266200
Disease:
Microcolon 		A 0.700 CausalMutation CLINVAR Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 28292896 2017