CA4, carbonic anhydrase 4, 762

N. diseases: 45; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
0.010 Biomarker disease BEFREE A novel mutation has been identified in CA4 that provides further evidence that impaired pH regulation may underlie photoreceptor degeneration in RP17. 17652713 2007