ADCY1, adenylate cyclase 1, 107

N. diseases: 42; N. variants: 3
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
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