Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. 28819299 2017
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. 26147992 2015
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 25133751 2014
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations. 23449718 2013
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR CRB1 mutations in inherited retinal dystrophies. 22065545 2012
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT CRB1 mutations in inherited retinal dystrophies. 22065545 2012
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. 20956273 2011
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686 2011
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. 22128245 2011
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. 20956273 2011
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486 2010
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931 2010
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 19140180 2009
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407 2009
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 19140180 2009
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 16543197 2006
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 CausalMutation CLINVAR Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725 2004
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT CRB1 mutation spectrum in inherited retinal dystrophies. 15459956 2004
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. 12843338 2003
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Mutation screening of Pakistani families with congenital eye disorders. 12573663 2003
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
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
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. 11559858 2001
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
0.800 GeneticVariation UNIPROT Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 10508521 1999