|
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 |
|
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 |
|
Coronary Arteriosclerosis
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.
|
30444878 |
2018 |
|
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 |
|
Low density lipoprotein cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
Duration of sleep
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.
|
30846698 |
2019 |
|
Breast size
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
|
Serum LDL cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
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 |
|
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 |
|
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 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
|
28448500 |
2017 |
|
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 |
|
Physical Activity Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
|
28448500 |
2017 |
|
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 |
|
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 |
|
Coronary heart disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.
|
30444878 |
2018 |
|
Sarcoidosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Tissue antigens with these characteristics were detected with immunoglobulin (Ig)G or F(ab')(2) fragments from the sera of sarcoidosis patients in 9 of 12 (75%) sarcoidosis tissues (150-160, 80, or 60-64 kD) but only 3 of 22 (14%) control tissues (all 62-64 kD; P = 0.0006).
|
15753209 |
2005 |
|
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 |
|
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 |
|
Coronary Arteriosclerosis
|
0.310 |
Biomarker
|
disease |
CTD_human |
Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.
|
28530674 |
2017 |
|
Endometriosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis.
|
20864642 |
2011 |
|
Endometrioma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis.
|
20864642 |
2011 |
|
Abdomen distended
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|