DENND1A, DENN domain containing 1A, 57706

N. diseases: 21; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE It was suggested that the TT genotype of LHCGR rs13405728, CC genotype of THADA rs12478601 and AG + GG genotype of DENND1A rs2479106 had poor outcomes of IVF-ET in treating PCOS. 30844144 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE Our findings provide additional evidence that DENND1A plays a central role in PCOS and suggest that rare noncoding variants contribute to disease pathogenesis. 31038695 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE Ingenuity® Pathway Analysis Core Pathway and Network Analyses suggest a network by which miR-130b-3p, DENND1A, the luteinizing hormone/choriogonadotropin receptor, Ras-related protein 5B, and signaling pathways that they potentially target may mediate hyperandrogenism in PCOS. 31184707 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE We demonstrate that Dennd1a, a susceptibility gene for PCOS, is essential for embryogenesis, probably through the mediation of endocytic recycling of selective cargos that are involved in cell signaling crucial for the development of multiple embryonic organ systems. 30884041 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Minor allele frequency of rs10818854 and rs10986105 DENND1A variants were significantly higher among women with PCOS. 29325736 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease GWASCAT Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. 30566500 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 AlteredExpression disease BEFREE Variant 2 of the DENND1A gene was found overexpressed in PCOS theca cells and confirmed to enhance androgen production. 26498719 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Overall, significant increase of PCOS risk was found between DENND1A-rs10818854 and PCOS susceptibility. 26757598 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE PCOS has a strong genetic component, and genome-wide association studies have identified several candidate genes, notably DENND1A, which encodes connecdenn 1, involved in trafficking of endosomes. 27297658 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE In addition, GWAS have suggested that DENND1A, epidermal growth factor signaling, and DNA repair pathways play a role in PCOS pathogenesis. 26908109 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE The association of DENND1A gene polymorphisms and polycystic ovary syndrome risk: a systematic review and meta-analysis. 27488699 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE To conclude we demonstrated lack of association of DENND1A SNPs rs10818854, rs2479106, and rs10986105, previously associated with PCOS in Asians, with PCOS in Bahraini Arab women. 25626177 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE Genome-wide association studies based on adequate population samples have shown a higher frequency of genetic polymorphisms of the LHCGR, THADA and DENND1A genes in women with PCOS. 25835506 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Our previous research had identified three susceptibility loci (rs2479106, DENND1A; rs13405728, LHCGR; rs13429458, THADA) for PCOS in Han Chinese women. 25978310 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Variants in DENND1A (P = .0002), THADA (P = .035), FSHR (P = .007), and INSR (P = .046) were associated with PCOS in Europeans. 25303487 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE Knock-down of DENND1A.V2 in PCOS theca cells reduced androgen biosynthesis and CYP17A1 and CYP11A1 gene transcription. 24706793 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease 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
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE We therefore sequenced the DENND1A gene in white patients with PCOS to identify possible alterations that may be implicated in the PCOS pathogenesis. 24086769 2013
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Variation in DENND1A was strongly associated with PCOS in the study cohort (p(combined cohorts)=10(-8)); multiple variants in THADA were also associated with PCOS, while there was no significant evidence for association of LHCGR variation with PCOS. 22180642 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry. 22547425 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease GWASDB Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease 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
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease GWASCAT Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease GWASDB Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. 21151128 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease GWASCAT Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. 21151128 2011