ADCY1, adenylate cyclase 1, 107

N. diseases: 42; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857809
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 44
DEAFNESS, AUTOSOMAL RECESSIVE 44
0.600 CausalMutation disease CLINVAR Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. 24482543 2014
CUI: C1857809
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 44
DEAFNESS, AUTOSOMAL RECESSIVE 44
0.600 Biomarker disease CTD_human
CUI: C1857809
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 44
DEAFNESS, AUTOSOMAL RECESSIVE 44
0.600 Biomarker disease GENOMICS_ENGLAND
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300 Biomarker disease CLINGEN Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. 24482543 2014
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.300 Biomarker disease CTD_human Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. 22941189 2012
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome
0.300 Biomarker disease CTD_human Calmodulin-stimulated adenylyl cyclase gene deletion affects morphine responses. 16914643 2006
CUI: C0086189
Disease: Drug Withdrawal Symptoms
Drug Withdrawal Symptoms
0.300 Biomarker phenotype CTD_human Calmodulin-stimulated adenylyl cyclase gene deletion affects morphine responses. 16914643 2006
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms
0.300 Biomarker phenotype CTD_human Calmodulin-stimulated adenylyl cyclase gene deletion affects morphine responses. 16914643 2006
CUI: C0751217
Disease: Hyperkinesia, Generalized
Hyperkinesia, Generalized
0.300 Biomarker phenotype CTD_human Calmodulin-stimulated adenylyl cyclase gene deletion affects morphine responses. 16914643 2006
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
0.300 Biomarker phenotype CTD_human Calmodulin-stimulated adenylyl cyclase gene deletion affects morphine responses. 16914643 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.100 GeneticVariation disease GWASCAT Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study. 29121268 2018
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.100 GeneticVariation disease GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study. 29121268 2018
Prelingual sensorineural hearing impairment
0.100 Biomarker disease HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE These data reveal a previously unrecognized lysosomal P2RX4- and ADCY1-dependent signaling cascade as a pathway essential for CAD-induced lysosome-dependent cell death and encourage further investigations to find the most potent combinations of CADs and cAMP-inducing drugs for cancer therapy. 31285280 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE These data reveal a previously unrecognized lysosomal P2RX4- and ADCY1-dependent signaling cascade as a pathway essential for CAD-induced lysosome-dependent cell death and encourage further investigations to find the most potent combinations of CADs and cAMP-inducing drugs for cancer therapy. 31285280 2019
CUI: C0030193
Disease: Pain
Pain
0.020 Biomarker phenotype BEFREE Our data indicate that ST034307 is a selective small-molecule inhibitor of AC1 and suggest that selective AC1 inhibitors may be useful for managing pain. 28223412 2017
CUI: C0030193
Disease: Pain
Pain
0.020 Biomarker phenotype BEFREE Furthermore, it remains unknown whether methylglyoxal is sufficient to activate neurons in the spinal cord dorsal horn, whether this requires TRPA1, and if the calcium-sensitive adenylyl cyclase 1 isoform (AC1) contributes to MG-evoked pain. 29270106 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.020 GeneticVariation phenotype BEFREE Previously, a novel autosomal recessive non-syndromic hearing impairment locus DFNB44 was mapped to chromosome 7p14.1-q11.22 in a consanguineous family from Pakistan. 24482543 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Normal distribution was only found in the distribution of the age of diagnosis of the first cancer in both AC I families (coefficient of skewness: u = 0.81, 0.20<0.40<P<0.50; coefficient of kurtosis: u = 1.13, 0.20<P<0.40, alpha = 0.20) and AC II families (coefficient of skewness: u = 0.63, P>0.5>0.20; coefficient of kurtosis: u = 0.84, 0.20<0.40<P<0.50, alpha = 0.20), but not found in the distribution of the age of diagnosis of the first CRC. 15770724 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Normal distribution was only found in the distribution of the age of diagnosis of the first cancer in both AC I families (coefficient of skewness: u = 0.81, 0.20<0.40<P<0.50; coefficient of kurtosis: u = 1.13, 0.20<P<0.40, alpha = 0.20) and AC II families (coefficient of skewness: u = 0.63, P>0.5>0.20; coefficient of kurtosis: u = 0.84, 0.20<0.40<P<0.50, alpha = 0.20), but not found in the distribution of the age of diagnosis of the first CRC. 15770724 2005
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.020 GeneticVariation phenotype BEFREE DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. 15583425 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation disease BEFREE In recent years, investigations based on genetic sequencing have revealed the emerging role of ADCY1 mutations in affecting drug efficiency in various cancers such as lung cancer, esophageal cancer and colorectal cancer. 31839819 2019
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.010 Biomarker disease BEFREE We found that AC1, a key enzyme for pain-related cortical plasticity, was significantly increased in the ACC in an animal model of irritable bowel syndrome. 31665810 2019
CUI: C0234245
Disease: Visceral Pain
Visceral Pain
0.010 AlteredExpression phenotype BEFREE Our findings demonstrate that the upregulation of AC1 protein in the cortex may underlie the pathology of chronic visceral pain; and inhibiting AC1 activity may be beneficial for the treatment of visceral pain. 31665810 2019