Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486

2010
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 CausalMutation CLINVAR An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 18055820

2007
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.200 GeneticVariation CLINVAR Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 10508521

1999