CABP4, calcium binding protein 4, 57010

N. diseases: 29; N. variants: 11
Disease: Amaurosis congenita of Leber, type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation disease BEFREE To describe the finding of a novel calcium binding protein 4 (CABP4) mutation in a family with Leber congenital amaurosis (LCA) phenotype. 20157620 2010