×
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