CHRM3, cholinergic receptor muscarinic 3, 1131

N. diseases: 284; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 GermlineCausalMutation disease ORPHANET We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. 22077972 2011
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 Biomarker disease HPO
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 CausalMutation disease CLINVAR
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 Biomarker disease CTD_human We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. 22077972 2011
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 Biomarker disease BEFREE T2DM mouse model was induced by high-fat-diet, and the mice were treated with fenofibrate (100 mg/kg) (DIO-FENO) or PBS (DIO-PBS) for 4 weeks. 29029615 2017
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 Biomarker disease BEFREE Animals received four weekly injections of either PBS (G1), ConvitVax (200 μg cell homogenate, 0.0625 mg BCG, 0.02% formalin) (G2), 50 μg anti-PD-1 (G3), or ConvitVax plus anti-PD-1 (200 μg cell homogenate, 0.0625 mg BCG, 0.02% formalin, 50 μg anti-PD-1) (G4). 31762937 2019
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 Biomarker disease BEFREE Here, we employed BALB/c ByJ mice inflected with SP, IAV, IAV followed by SP (IAV+SP) and PBS (Control) as models to survey the global gene expression using digital gene expression (DGE) profiling. 29348862 2017
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 GeneticVariation disease BEFREE Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 22077972 2011
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.650 GeneticVariation disease BEFREE Finally, in a murine model of type 1 diabetes, NTA-modified complex micelles loading an insulin (NTA-CM-INS) group exhibited a long hypoglycemic effect which is superior to that of free insulin in the PBS (PBS-INS) group and insulin-loaded complex micelles without an NTA modification (CM-INS) group. 30212220 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.410 AlteredExpression disease BEFREE We used this assay to measure CHRM3 protein levels in the frontal pole, obtained post-mortem from subjects with bipolar disorder (n = 15), major depressive disorder (n = 15) and matched controls (n = 20) and showed that [(3)H]4-DAMP binding was not altered in either bipolar disorder or major depressive disorder. 23962466 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.410 GeneticVariation disease GWASCAT GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort. 30219690 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.400 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.400 Biomarker disease CTD_human Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 22077972 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 AlteredExpression disease BEFREE We used this assay to measure CHRM3 protein levels in the frontal pole, obtained post-mortem from subjects with bipolar disorder (n = 15), major depressive disorder (n = 15) and matched controls (n = 20) and showed that [(3)H]4-DAMP binding was not altered in either bipolar disorder or major depressive disorder. 23962466 2013
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 AlteredExpression disease BEFREE We used this assay to measure CHRM3 protein levels in the frontal pole, obtained post-mortem from subjects with bipolar disorder (n = 15), major depressive disorder (n = 15) and matched controls (n = 20) and showed that [(3)H]4-DAMP binding was not altered in either bipolar disorder or major depressive disorder. 23962466 2013
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Scopolamine treatment and muscarinic receptor subtype-3 gene ablation augment azoxymethane-induced murine liver injury. 20197374 2010
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.300 Biomarker disease CTD_human Scopolamine treatment and muscarinic receptor subtype-3 gene ablation augment azoxymethane-induced murine liver injury. 20197374 2010
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.300 Biomarker disease CTD_human Scopolamine treatment and muscarinic receptor subtype-3 gene ablation augment azoxymethane-induced murine liver injury. 20197374 2010
CUI: C0265363
Disease: Urethral obstruction sequence
Urethral obstruction sequence 		0.300 GermlineCausalMutation disease ORPHANET Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 22077972 2011
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		0.300 Biomarker disease CTD_human Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 22077972 2011
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		0.300 Biomarker disease CTD_human Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 22077972 2011
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Scopolamine treatment and muscarinic receptor subtype-3 gene ablation augment azoxymethane-induced murine liver injury. 20197374 2010
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		0.300 Biomarker disease CTD_human Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 22077972 2011
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker disease CTD_human Scopolamine treatment and muscarinic receptor subtype-3 gene ablation augment azoxymethane-induced murine liver injury. 20197374 2010
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker disease CTD_human Scopolamine treatment and muscarinic receptor subtype-3 gene ablation augment azoxymethane-induced murine liver injury. 20197374 2010