CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.140 Biomarker phenotype BEFREE In LCA8, impaired photoreceptor development and/or survival is thought to cause blindness during early infancy, whereas, in RP12, progressive photoreceptor degeneration damages peripheral vision later in life. 31145883 2019
CUI: C0456909
Disease: Blindness
Blindness 		0.140 Biomarker phenotype BEFREE Therefore, the CRB1 gene is a key target in the fight against blindness. 29188511 2018
CUI: C0456909
Disease: Blindness
Blindness 		0.140 GeneticVariation phenotype LHGDN CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis. 16936081 2006
CUI: C0456909
Disease: Blindness
Blindness 		0.140 GeneticVariation phenotype LHGDN A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 12567265 2002
CUI: C0456909
Disease: Blindness
Blindness 		0.140 Biomarker phenotype HPO