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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 21602930

2011