Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease BEFREE We employed the rd10 mouse model (Pde6b <sup>rd10</sup> mutation) of retinitis pigmentosa (RP) to examine the involvement of BET proteins in retinal neurodegeneration. 28103888 2017
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease BEFREE Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype. 26188004 2015
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: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease BEFREE Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. 26321862 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 Biomarker disease BEFREE Preclinical studies often rely on the retinal degeneration 1 (rd1 or Pde6b(rd1)) retinitis pigmentosa (RP) mouse model. 26283863 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: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease BEFREE The homozygous PDE6B mutation causes retinitis pigmentosa. 24828262 2014
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease BEFREE THE FAMILY WAS FOUND TO SEGREGATE NOVEL MUTATIONS OF TWO DIFFERENT GENES: myosin VIIA (MYO7A), which causes type 1 Usher syndrome, and phosphodiesterase 6B, cyclic guanosine monophosphate-specific, rod, beta (PDE6B), which causes nonsyndromic RP. 23882135 2013
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: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 Biomarker disease CTD_human Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model. 21039428 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: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease BEFREE While Pde6b(rd1)/Pde6b(rd1) mice have severe photoreceptor degeneration, as in human RP, the H258N transgene rescued these cells. 17044014 2007
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: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease BEFREE Mutations in PDE6A and the PDE6B genes lead to autosomal recessive (ar) forms of retinitis pigmentosa (RP) in human and to the homologous disease in dogs, designated generalised progressive retinal atrophy (gPRA). 10782214 2000
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease BEFREE Mutations in PDE6A and the PDE6B genes lead to autosomal recessive (ar) forms of retinitis pigmentosa (RP) in human and to the homologous disease in dogs, designated generalised progressive retinal atrophy (gPRA). 10782214 2000
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.900 GeneticVariation disease BEFREE The PDE6A gene appears to account for roughly 3% to 4% of families with recessive RP in North America. 10393062 1999
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 Biomarker disease BEFREE In previous efforts to identify the erd locus, canine homologs of genes causally associated with RP in humans, such as opsin (RHO), the beta-subunit gene for cyclic GMP phosphodiesterase (PDE6B), and RDS/peripherin, were excluded. 10409424 1999
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 Biomarker disease BEFREE In previous efforts to identify the genetic locus for prcd, the canine homologs for many of the genes causally associated with RP in humans, such as RHO, PDE6B, and RDS/peripherin, have been excluded. 9501213 1998
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.900 GeneticVariation disease BEFREE Using the PCR-SSCP method, sequencing analysis, and restriction endonuclease digestion assay, we analyzed the PDEB gene in 17 Japanese families with non-dominant retinitis pigmentosa. 9543643 1998