PDE6C, phosphodiesterase 6C, 5146

N. diseases: 37; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 Biomarker disease BEFREE Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia. 19887631 2009
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 Biomarker disease BEFREE PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. 31826238 2019
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease BEFREE Our study significantly contributes to the mutation spectrum of PDE6C and allows for a realistic estimate of the prevalence of PDE6C mutations in ACHM since our entire ACHM cohort comprises 1,074 independent families. 30080950 2018
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease BEFREE A novel homozygous PDE6C mutation was identified as the cause of ACHM. 25605338 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease BEFREE We uncovered two mechanisms of PDE6C mutations underlying ACHM: (a) folding defects leading to expression of catalytically inactive proteins and (b) markedly diminished ability of Pγ to co-chaperone mutant PDE6C proteins thereby dramatically reducing the levels of functional enzyme. 28583373 2017
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease BEFREE Genetic sequencing confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a cone-specific phototransduction enzyme associated with achromatopsia in humans. 30667376 2019
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease BEFREE Here we present the results of a comprehensive study on PDE6C mutations including the mutation spectrum, its prevalence in a large cohort of ACHM/cone dysfunction patients, the clinical phenotype and the functional characterization of mutant PDE6C proteins. 21127010 2011
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.110 GeneticVariation disease BEFREE Sequence analysis of 104 probands with arCD and 10 probands with ACHM revealed compound heterozygous PDE6C mutations in three complete ACHM patients from two families. 19615668 2009
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 GeneticVariation disease BEFREE We uncovered two mechanisms of PDE6C mutations underlying ACHM: (a) folding defects leading to expression of catalytically inactive proteins and (b) markedly diminished ability of Pγ to co-chaperone mutant PDE6C proteins thereby dramatically reducing the levels of functional enzyme. 28583373 2017
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 GeneticVariation disease BEFREE Our study significantly contributes to the mutation spectrum of PDE6C and allows for a realistic estimate of the prevalence of PDE6C mutations in ACHM since our entire ACHM cohort comprises 1,074 independent families. 30080950 2018
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 GeneticVariation disease BEFREE Here we present the results of a comprehensive study on PDE6C mutations including the mutation spectrum, its prevalence in a large cohort of ACHM/cone dysfunction patients, the clinical phenotype and the functional characterization of mutant PDE6C proteins. 21127010 2011
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 Biomarker disease BEFREE PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. 31826238 2019
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 Biomarker disease BEFREE Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia. 19887631 2009
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 GeneticVariation disease BEFREE Genetic sequencing confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a cone-specific phototransduction enzyme associated with achromatopsia in humans. 30667376 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 GeneticVariation group BEFREE To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa. 10393054 1999
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 Biomarker group BEFREE PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. 31826238 2019
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa. 10393054 1999
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		0.010 Biomarker disease BEFREE Simulation of three-dimensional structure revealed that both Cod4 and Cod7 shared a similar folding pattern with HyPgdA from Helicobacter pylori and, similar to HyPgdA, a substitution of Thr8 by Ala8 in Cod7 abolished its CDA activity. 31602821 2020
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		0.010 Biomarker disease BEFREE PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. 31826238 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.010 GeneticVariation disease BEFREE To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMP>phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa. 10393054 1999
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		0.010 Biomarker phenotype BEFREE Mammalian-cell-based assays and in vitro enzyme inhibition assays against human PDE6C further helped to identify the most potent and selective icariin analogs. 31539416 2019
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		0.010 GeneticVariation disease BEFREE Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). 25605338 2015
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		0.010 GeneticVariation disease BEFREE Sequence analysis of 104 probands with arCD and 10 probands with ACHM revealed compound heterozygous PDE6C mutations in three complete ACHM patients from two families. 19615668 2009
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 CausalMutation disease CLINVAR
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease CLINVAR