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: C0018809
Disease: Heart Neoplasm
Heart Neoplasm 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		0.100 Biomarker phenotype HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		0.100 Biomarker phenotype HPO
CUI: C0243026
Disease: Sepsis
Sepsis 		0.100 Biomarker disease HPO
CUI: C0266200
Disease: Microcolon
Microcolon 		0.100 Biomarker disease HPO
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		0.100 Biomarker disease HPO
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1855311
Disease: Megacystis
Megacystis 		0.100 Biomarker phenotype HPO
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.100 Biomarker phenotype HPO
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		0.100 Biomarker disease HPO
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.010 AlteredExpression disease BEFREE Among all DEGs, 5 down-regulated genes (MYH11, CNN1, MYOCD, ACTA1, and LMOD1) and 3 up-regulated genes (C1QB, C3AR1, and VSIG4) are most relevant in IA formation. 31238169 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Genes such as ACTA2, ACTG2, MYH11, CALD1, MYL9, TPM2, and LMOD1 were strongly implicated in CRC. 30786729 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 Biomarker disease BEFREE By bioinformatics analysis, the four up-regulated proteins (PTMA, PAK2, PPP1CA, HMGB2) and the five down-regulated proteins (Caveolin, Integrin beta-1, Collagen alpha-2(VI), Leiomodin-1 and Vinculin) were selected and validated in ESCC by Western Blot. 30988666 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus. 30444878 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: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1 		0.010 Biomarker disease BEFREE LMOD1 knockdown results in increased proliferation and migration and decreased cell contraction in HCASMC, and immunostaining in atherosclerotic lesions in the SMC lineage tracing reporter mouse support a key role for LMOD1 in maintaining the differentiated SMC phenotype. 30444878 2018
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: 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: 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