CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Rod-Cone Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.130 GeneticVariation disease BEFREE Furthermore, two patients with cone-rod dystrophy due to mutations in CRB1 were reported, supporting previous data, in which mutations in CRB1 can also cause cone-rod dystrophy. 28819299 2017
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.130 GeneticVariation disease BEFREE Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. 23767994 2014
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.130 GeneticVariation disease BEFREE Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). 22065545 2012
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.130 Biomarker disease HPO