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 CausalMutation disease CLINVAR
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 Biomarker disease MGD
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: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease CLINVAR
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GermlineCausalMutation disease ORPHANET Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 Biomarker disease GENOMICS_ENGLAND
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation disease CLINVAR
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation disease UNIPROT Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation disease UNIPROT Mechanisms of mutant PDE6 proteins underlying retinal diseases. 28583373 2017
CUI: C2751308
Disease: CONE DYSTROPHY 4 (disorder)
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation disease UNIPROT Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. 21127010 2011
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse 		0.300 Biomarker disease CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.300 GermlineCausalMutation disease ORPHANET Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.110 Biomarker disease HPO
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