Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE Logistic regression analysis was conducted to analyze the risk factors influencing the occurrence of PCOS as well as those influencing the efficacy of IVF-ET. rs13405728, rs12478601, and family history of DM were influencing factors for the occurrence of PCOS. 30844144 2019
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE Results of the meta-analysis showed a significant association between PCOS and rs13405728 (for G vs. A: OR = 0.735, 95% CI = 0.699-0.773, p<.001; For GG vs. AG + AA: OR = 0.578, 95% CI = 0.436-0.767, p<.001; For GG + AG vs. AA: OR = 0.817, 95% CI = 0.741-0.901, p<.001) in Asian populations, and rs4539842 (for ins/ins vs. ins/non + non/non: OR = 0.686, 95% CI = 0.483-0.974, p=.035) and rs2293275 (for AA vs. AG + GG: OR = 4.115, 95% CI = 1.033-16.38, p=.045) in Caucasian populations, respectively. 30182769 2019
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE <b>Conclusions:</b> Genetic variants of PCOS (rs13405728 in <i>LHCGR</i> gene; rs13429458 in <i>THADA</i> gene and rs2479106 in <i>DENND1A</i> gene) may not be involved in the development of preeclampsia in Han Chinese women. 29727258 2019
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE The present study suggested that the SNP rs13405728 in the LHCGR gene was associated with PCOS in Hui ethnic women, and its TT genotype characterized with higher level of TT, TG and LDL. 25978310 2015
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE Variants of rs3802457 in C9orf3 locus (P = 5.99×10-4) and rs13405728 in LHCGR locus (P = 3.73×10-4) were significantly associated with PCOS after the strict Bonferroni correction in our data set. 26474478 2015
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS. 23208300 2013
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE Although the marker with the strongest association in the Chinese PCOS genome-wide association study (rs13405728) was not informative in the European populations, we identified and genotyped three markers (rs35960650, rs2956355, and rs7562879) within 5 kb of rs13405728. 23118426 2013
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE The aim of this study was to explore the polycystic ovary syndrome (PCOS) related single nucleotide polymorphisms (SNPs) rs13405728 (in gene LHCGR), rs13429458 (in gene THADA) and rs2479106 (in gene DENND1A) in women with endometrial carcinoma. 22902918 2012
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE Other risk variants at 2p16.3 (rs13405728), 2p21 (rs12468394, rs12478601, and rs13429458), and 9q33.3 (rs2479106), or variants correlated with them, did not associate with PCOS. 22547425 2012
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation GWASDB Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation GWASCAT Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation GWASCAT We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34). 21151128 2011
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation GWASDB We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34). 21151128 2011
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.900 GeneticVariation BEFREE We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34). 21151128 2011
Hyperandrogenism
CUI: C0206081
Disease: Hyperandrogenism
0.010 GeneticVariation 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
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
0.010 GeneticVariation 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)
CUI: C0429468
Disease: Anovulatory (finding)
0.010 GeneticVariation 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
Anovulation
CUI: C0003128
Disease: Anovulation
0.010 GeneticVariation 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
Adenocarcinoma, Endometrioid
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
0.010 GeneticVariation BEFREE Our results suggest that SNPs rs2479106 in gene DENND1A and rs13405728 in gene LHCGR are associated with endometrioid adenocarcinoma. 22902918 2012
Carcinoma, Endometrioid
CUI: C0206687
Disease: Carcinoma, Endometrioid
0.010 GeneticVariation BEFREE Our results suggest that SNPs rs2479106 in gene DENND1A and rs13405728 in gene LHCGR are associated with endometrioid adenocarcinoma. 22902918 2012
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE The allele frequencies of SNPs rs2479106 and rs13405728 were significantly different (P<0.05) between endometrial carcinoma group and control group, and the difference was especially significant in the subgroup of endometrioid adenocarcinoma. 22902918 2012