CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Hyperopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.120 Biomarker disease HPO
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 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 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