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 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 |
GeneticVariation
|
disease |
BEFREE |
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.
|
30444878 |
2018 |
Coronary Arteriosclerosis
|
0.310 |
Biomarker
|
disease |
CTD_human |
Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.
|
28530674 |
2017 |
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 |
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 |
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 |
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 |
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 |
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
|
29273807 |
2018 |
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 |
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 |
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 |
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 |
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 |
Physical Activity Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
|
28448500 |
2017 |
Breast size
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
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 |
Serum LDL cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
Abdomen distended
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|