ADCY6, adenylate cyclase 6, 112

N. diseases: 28; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.710 GeneticVariation disease BEFREE Our findings expand the clinical and mutational spectrum of LCCS8, showing a possible correlation between the impact of the ADCY6 missense variants reported to date, predicted by molecular modelling, and the severity of the phenotype.This article is protected by copyright.All rights reserved. 31846058 2020
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.710 GeneticVariation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.710 GeneticVariation disease UNIPROT Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.710 Biomarker disease CTD_human
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		0.710 CausalMutation disease CLINVAR
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction 		0.200 Biomarker phenotype RGD Angiotensin II regulates V2 receptor and pAQP2 during ureteral obstruction. 18971210 2009
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.110 GeneticVariation disease BEFREE Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.110 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		0.100 Biomarker disease HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		0.100 Biomarker phenotype HPO
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 Biomarker phenotype BEFREE We generated intestinal epithelial cell-specific adenylyl cyclase 6 (AC6) knockout mice to study its role in CT-induced diarrhea. 30624615 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 Biomarker phenotype BEFREE Our finding that the CFTR-AC6 protein complex is the key mediator of CTX-associated diarrhea may facilitate development of antidiarrheal agents to manage cholera symptoms and improve outcomes. 29903911 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.020 GeneticVariation disease BEFREE Association of adenylyl cyclase 6 rs3730070 polymorphism and hemolytic level in patients with sickle cell anemia. 27067484 2016
CUI: C0018801
Disease: Heart failure
Heart failure 		0.020 Biomarker disease BEFREE AC6 gene transfer safely increased LV function beyond standard heart failure therapy, attainable with one-time administration.Larger trials are warranted. 27437887 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.020 GeneticVariation disease BEFREE We postulate that ADRB2 and ADCY6 polymorphisms may influence SCD severity through the mechanism of RBC adhesion. 18324973 2008
CUI: C0018801
Disease: Heart failure
Heart failure 		0.020 Biomarker disease LHGDN Adenylylcyclase gene transfer increases function of the failing heart. 17007567 2006
CUI: C0002063
Disease: Alkalosis
Alkalosis 		0.010 Biomarker phenotype BEFREE They uncovered a complex role of AC6, specifically affecting acid-base balance during HCO<sub>3</sub><sup>-</sup> load, which causes pronounced alkalosis in AC6-deficient mice. 30220652 2018