CHRM3, cholinergic receptor muscarinic 3, 1131

N. diseases: 284; N. variants: 17
Disease: Congenital anomaly of the bladder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266335
Disease: Congenital anomaly of the bladder
Congenital anomaly of the bladder 		0.010 GeneticVariation group BEFREE 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