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: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.010 Biomarker disease BEFREE We identified two new formalin-fixed, paraffin-embedded tissue-compatible diagnostic immunohistochemical markers; LMOD1 for subtype I leiomyosarcoma and ARL4C for subtype II leiomyosarcoma. 25896974 2015
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		0.010 Biomarker disease BEFREE We identified two new formalin-fixed, paraffin-embedded tissue-compatible diagnostic immunohistochemical markers; LMOD1 for subtype I leiomyosarcoma and ARL4C for subtype II leiomyosarcoma. 25896974 2015
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		0.010 Biomarker disease BEFREE We identified two new formalin-fixed, paraffin-embedded tissue-compatible diagnostic immunohistochemical markers; LMOD1 for subtype I leiomyosarcoma and ARL4C for subtype II leiomyosarcoma. 25896974 2015
CUI: C0425782
Disease: Breast size
Breast size 		0.100 GeneticVariation phenotype GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C3658353
Disease: Nodding Syndrome
Nodding Syndrome 		0.010 Biomarker disease BEFREE Antibodies targeting leiomodin-1 were neurotoxic in vitro, and leiomodin-1 antibodies purified from patients with nodding syndrome were cross-reactive with <i>O. volvulus</i> antigens. 28202777 2017
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.310 GeneticVariation disease BEFREE Mice homozygous for the mutation showed loss of LMOD1 protein and pathology consistent with MMIHS, including late gestation expansion of the bladder, hydronephrosis, and rapid demise after parturition. 28292896 2017
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.310 GermlineCausalMutation disease ORPHANET Mice homozygous for the mutation showed loss of LMOD1 protein and pathology consistent with MMIHS, including late gestation expansion of the bladder, hydronephrosis, and rapid demise after parturition. 28292896 2017
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		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: 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
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: C2931117
Disease: Fetal megacystis
Fetal megacystis 		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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.410 Biomarker disease CTD_human We identified 25 new SNP-CAD associations (P < 5 × 10<sup>-8</sup>, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p.Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315). 28530674 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.310 Biomarker disease CTD_human Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. 28530674 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 GeneticVariation disease BEFREE We identified 25 new SNP-CAD associations (P < 5 × 10<sup>-8</sup>, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p.Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315). 28530674 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 GeneticVariation disease BEFREE We identified 25 new SNP-CAD associations (P < 5 × 10<sup>-8</sup>, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p.Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315). 28530674 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.410 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease. 29453416 2018
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.100 GeneticVariation group GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.410 GeneticVariation disease BEFREE These results provide compelling functional evidence that genetic variation is associated with dysregulated LMOD1 expression/function in SMCs, together contributing to the heritable risk for CAD. 30444878 2018