rs62636275, CRB1

N. diseases: 4
Disease: LEBER CONGENITAL AMAUROSIS 8 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
0.800 GeneticVariation UNIPROT Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. 12700176 2003
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
0.800 GeneticVariation UNIPROT A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 12567265 2002
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
0.800 GeneticVariation UNIPROT Mutations in the CRB1 gene cause Leber congenital amaurosis. 11231775 2001
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
0.800 GeneticVariation UNIPROT Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 11389483 2001