Drusen
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
To evaluate apolipoprotein (Apo) gene expression in native human retinal pigment epithelium (RPE) and neurosensory retina and to detect apolipoproteins within age-related, extramacular drusen.
|
16799058 |
2006 |
Coronary heart disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The strong effect of family history suggests a major genetic component for the development of CHD in Kuwaitis, but this association does not appear to be related to the APO genes studied here.
|
19494537 |
2009 |
Juvenile-Onset Still Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Juvenile arthritis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Juvenile psoriatic arthritis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Polyarthritis, Juvenile, Rheumatoid Factor Negative
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Polyarthritis, Juvenile, Rheumatoid Factor Positive
|
0.300 |
Biomarker
|
disease |
CTD_human |
Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets.
|
19565504 |
2009 |
Adiponectin Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Adiponectin concentrations: a genome-wide association study.
|
20887962 |
2010 |
Precancerous Conditions
|
0.300 |
Biomarker
|
group |
CTD_human |
Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS.
|
21472284 |
2012 |
Condition, Preneoplastic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS.
|
21472284 |
2012 |
Atrial Fibrillation
|
0.420 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
Atrial Fibrillation
|
0.420 |
Biomarker
|
disease |
CTD_human |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
Atrial Fibrillation
|
0.420 |
GeneticVariation
|
disease |
GWASDB |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
Paroxysmal atrial fibrillation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
Persistent atrial fibrillation
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
familial atrial fibrillation
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
|
22544366 |
2012 |
Polycystic Ovary Syndrome
|
0.130 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
|
22885925 |
2012 |
Polycystic Ovary Syndrome
|
0.130 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
|
22885925 |
2012 |
Atrial Fibrillation
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies (GWAS) have identified common variants in nine genomic regions associated with AF (KCNN3, PRRX1, PITX2, WNT8A, CAV1, C9orf3, SYNE2, HCN4 and ZFHX3 genes); however, the genetic variability of these risk variants does not explain the entire genetic susceptibility to AF.
|
25391453 |
2015 |
Polycystic Ovary Syndrome
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Each single PCOS clinical feature had a specific genetic association, and rs4385527 in the chromosome 9 open reading frame 3 (C9orf3) conferred a particular risk to the three defined PCOS clinical features in this study, which suggested its fundamental role in the etiology of PCOS.
|
25586784 |
2015 |
Anovulation
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
Thyroid Gland Follicular Adenoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
Hyperandrogenism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
Anovulatory (finding)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
Atrial Fibrillation
|
0.420 |
AlteredExpression
|
disease |
BEFREE |
We identified novel cis-acting associations in atrial tissue between AF risk SNPs and increased expression of PITX2a/b; and decreased expression of CAV1 (an association also seen in peripheral blood), C9orf3 and FANCC.
|
26073630 |
2015 |