Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. 30685614 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: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE To report the co-existence of novel biallelic PDE6A mutations and heterozygous RPGR mutation in a Chinese female patient with retinitis pigmentosa (RP), and to analyze the intrafamilial phenotypic diversity. 30289068 2018
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. 30153077 2018
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE By using targeted NGS method, we identified a compound heterozygous mutation in PDE6A gene that is associated with RP in a Chinese family. 29693493 2018
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease BEFREE Gene therapy successfully delays degeneration in a mouse model of PDE6A-linked retinitis pigmentosa (RP 43). 29212391 2017
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease BEFREE Gene Supplementation Rescues Rod Function and Preserves Photoreceptor and Retinal Morphology in Dogs, Leading the Way Towards Treating Human PDE6A-Retinitis Pigmentosa. 29212382 2017
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease BEFREE Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa. 28676737 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: 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: 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: 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: 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: 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 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: 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: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease CTD_human Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. 7493036 1995
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease HPO
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease MGD