Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 CausalMutation disease CLINVAR
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.950 GeneticVariation disease CLINVAR
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease CLINVAR Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. 25823529 2015
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease CLINVAR Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. 25775262 2015
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 CausalMutation disease CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease CLINVAR Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. 23134348 2013
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602 2010
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease CLINVAR Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486 2010
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 CausalMutation disease CLINVAR Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. 17110911 2006
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease CLINVAR Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. 10393062 1999
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease CLINVAR Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 7724547 1995
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 CausalMutation disease CLINVAR Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 7724547 1995
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 CausalMutation disease CLINVAR Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. 8394174 1993
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.800 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.800 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.800 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.800 CausalMutation disease CLINVAR A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 11992260 2002
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.800 GeneticVariation disease CLINVAR A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 11992260 2002
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.800 CausalMutation disease CLINVAR Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 10932196 2000