CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Keratoconus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.130 Biomarker disease BEFREE Patients have absent pupillary reflex and some of them have keratoconus (CRB1 and AIPL1). 30578499 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.130 GeneticVariation disease BEFREE Retinal degenerations associated with nanophthalmos and hyperopia, or with keratoconus, can serve as further clinical cues to mutations in CRB1. 24138049 2014
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.130 GeneticVariation disease BEFREE Although the results cannot exclude other gene mutations, they suggest that LCA patients with a CRB1 mutation may have a particular susceptibility to keratoconus. 19407021 2009
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.130 Biomarker disease HPO