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 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 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 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 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 A novel homozygous PDE6C mutation was identified as the cause of ACHM. 25605338 2015
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 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 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 CausalMutation disease CLINVAR
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 Biomarker disease MGD
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 GeneticVariation disease CLINVAR
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 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: 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 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 Biomarker disease GENOMICS_ENGLAND
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: C0236733
Disease: Amphetamine-Related Disorders
Amphetamine-Related Disorders 		0.300 Biomarker group CTD_human Genome-wide association for methamphetamine dependence: convergent results from 2 samples. 18316681 2008
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: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND