CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.120 GeneticVariation disease BEFREE Clinical analysis of additional subjects with retinal dystrophies due to CRB1 mutations will help to identify if the high hyperopia, a frequently observed trait in these subjects, could be related to decreased eye axial length (nanophthalmos). 21484995 2011
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.120 GeneticVariation disease BEFREE A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 16543197 2006
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.120 GeneticVariation disease LHGDN We have shown that hyperopia and LCA are linked to the mutant CRB1 gene itself and are not dependent on unlinked modifiers. 16543197 2006
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.120 Biomarker disease HPO