CA1, carbonic anhydrase 1, 759

N. diseases: 66; N. variants: 7
Disease: Neural hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155550
Disease: Neural hearing loss
Neural hearing loss 		0.010 Biomarker disease BEFREE An inactive mutant form of red cell carbonic anhydrase B is described in three members of a large kindred who manifest infantile renal tubular acidosis and nerve deafness. 4202671 1974