CABP4, calcium binding protein 4, 57010

N. diseases: 29; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.010 GeneticVariation disease BEFREE A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. 20157620 2010