ADCY3, adenylate cyclase 3, 109

N. diseases: 47; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.490 GeneticVariation disease BEFREE Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. 29311636 2018
CUI: C0028754
Disease: Obesity
Obesity
0.490 Biomarker disease BEFREE This locus has provided novel biological insights, as it has been shown that reduced ADCY3 function causes obesity through disrupted function in primary cilia. 30101502 2018
CUI: C0028754
Disease: Obesity
Obesity
0.490 Biomarker disease BEFREE These findings highlight ADCY3 as an important mediator of energy homeostasis and an attractive pharmacological target in the treatment of obesity. 29311637 2018
CUI: C0028754
Disease: Obesity
Obesity
0.490 Biomarker disease CTD_human We demonstrate that MC4R colocalizes with ADCY3 at the primary cilia of a subset of hypothalamic neurons, that obesity-associated MC4R mutations impair ciliary localization and that inhibition of adenylyl cyclase signaling at the primary cilia of these neurons increases body weight. 29311635 2018
CUI: C0028754
Disease: Obesity
Obesity
0.490 Biomarker disease BEFREE Recent studies link novel ADCY3 variants to obesity and diabetes, and identify an important role of ADCY3-mediated signaling at neuronal primary cilia in the predisposition of obesity. 29454745 2018
CUI: C0028754
Disease: Obesity
Obesity
0.490 GeneticVariation disease BEFREE Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. 29311635 2018
CUI: C0028754
Disease: Obesity
Obesity
0.490 Biomarker disease BEFREE We performed a 2 × 2 factorial experiment to study the relationships among AC3, liraglutide and obesity and to obtain a more comprehensive understanding of the mechanisms underlying the physiological effects of liraglutide on obesity. 28481334 2017
CUI: C0028754
Disease: Obesity
Obesity
0.490 AlteredExpression disease BEFREE In this review, we describe genomic and biological features of ADCY3, summarize genetic and epigenetic association studies of the ADCY3 gene with obesity and discuss dysfunction and activation of ADCY3. 27256589 2016
CUI: C0028754
Disease: Obesity
Obesity
0.490 GeneticVariation disease BEFREE A total of 2580 adults, including 1490 lean (BMI = 18.5-23.9), 677 overweight (BMI 24.0-27.9) and 413 obese (BMI ≥28.0) subjects were genotyped for 5 TagSNPs in the AC3 gene. 21079816 2010
CUI: C0028754
Disease: Obesity
Obesity
0.490 GeneticVariation disease BEFREE Genetic variation of the adenylyl cyclase 3 (AC3) locus and its influence on type 2 diabetes and obesity susceptibility in Swedish men. 17895882 2008
CUI: C0028754
Disease: Obesity
Obesity
0.490 Biomarker disease HPO
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.310 GeneticVariation disease BEFREE Here we identify and functionally characterize homozygous mutations in the ADCY3 gene encoding adenylate cyclase 3 in children with severe obesity from consanguineous Pakistani families, as well as compound heterozygous mutations in a severely obese child of European-American descent. 29311637 2018
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.310 Biomarker disease CTD_human Here we identify and functionally characterize homozygous mutations in the ADCY3 gene encoding adenylate cyclase 3 in children with severe obesity from consanguineous Pakistani families, as well as compound heterozygous mutations in a severely obese child of European-American descent. 29311637 2018
CUI: C0011875
Disease: Diabetic Angiopathies
Diabetic Angiopathies
0.300 Biomarker disease CTD_human Upregulation of CREM/ICER suppresses wound endothelial CRE-HIF-1α-VEGF-dependent signaling and impairs angiogenesis in type 2 diabetes. 25381014 2015
CUI: C0025945
Disease: Microangiopathy, Diabetic
Microangiopathy, Diabetic
0.300 Biomarker disease CTD_human Upregulation of CREM/ICER suppresses wound endothelial CRE-HIF-1α-VEGF-dependent signaling and impairs angiogenesis in type 2 diabetes. 25381014 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.300 Biomarker disease PSYGENET Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (ADCY3, 2p23.3) and galanin (GAL, 11q13.3); published functional evidence relates both of these to MDD and serotonergic signaling; (b) support for the bipolar disorder risk variant SNP rs1006737 in CACNA1C (P=0.020, odds ratio=1.10); and (c) lack of support for rs2251219, a SNP identified in a meta-analysis of affective disorder studies (P=0.51). 21042317 2012
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
0.300 Biomarker group PSYGENET Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (ADCY3, 2p23.3) and galanin (GAL, 11q13.3); published functional evidence relates both of these to MDD and serotonergic signaling; (b) support for the bipolar disorder risk variant SNP rs1006737 in CACNA1C (P=0.020, odds ratio=1.10); and (c) lack of support for rs2251219, a SNP identified in a meta-analysis of affective disorder studies (P=0.51). 21042317 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.110 GeneticVariation disease BEFREE In addition, 9 genes previously associated with IBD contained SNPs with significant evidence for replication (P < 1.6 × 10<sup>-6</sup>): ADCY3, CXCR6, HLA-DRB1 to HLA-DQA1 (genome-wide significance on conditioning), IL12B,PTGER4, and TNC for IBD; IL23R, PTGER4, and SNX20 (in strong linkage disequilibrium with NOD2) for CD; and KCNQ2 (near TNFRSF6B) for UC. 27693347 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.110 Biomarker group BEFREE In addition, 9 genes previously associated with IBD contained SNPs with significant evidence for replication (P < 1.6 × 10<sup>-6</sup>): ADCY3, CXCR6, HLA-DRB1 to HLA-DQA1 (genome-wide significance on conditioning), IL12B,PTGER4, and TNC for IBD; IL23R, PTGER4, and SNX20 (in strong linkage disequilibrium with NOD2) for CD; and KCNQ2 (near TNFRSF6B) for UC. 27693347 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.110 GeneticVariation group GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.110 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.110 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.110 GeneticVariation group GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.110 GeneticVariation group GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.110 GeneticVariation group GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012