PDE6H, phosphodiesterase 6H, 5149

N. diseases: 33; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.720 Biomarker disease CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.720 Biomarker disease BEFREE Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM. 26063662 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.720 GeneticVariation disease BEFREE Applying a functional-candidate-gene approach that focused on screening additional genes involved in this process in a cohort of 611 index cases with ACHM or other cone photoreceptor disorders, we detected a homozygous single base change (c.35C>G) resulting in a nonsense mutation (p.Ser12(∗)) in PDE6H, encoding the inhibitory γ subunit of the cone photoreceptor cyclic guanosine monophosphate phosphodiesterase. 22901948 2012
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.720 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. 22901948 2012
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.720 GermlineCausalMutation disease ORPHANET
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.720 CausalMutation disease CLINVAR
CUI: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		0.600 Biomarker disease GENOMICS_ENGLAND Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		0.600 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. 22901948 2012
CUI: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		0.600 CausalMutation disease CLINVAR
CUI: C1864900
Disease: Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3A 		0.600 Biomarker disease CTD_human
CUI: C0242225
Disease: Color blindness
Color blindness 		0.310 GeneticVariation disease BEFREE Recently, the human PDE6H gene was identified as a novel locus for autosomal recessive (incomplete) color blindness. 25739440 2015
CUI: C0242225
Disease: Color blindness
Color blindness 		0.310 Biomarker disease CTD_human Recently, the human PDE6H gene was identified as a novel locus for autosomal recessive (incomplete) color blindness. 25739440 2015
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.300 Biomarker phenotype CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		0.300 Biomarker disease CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		0.300 Biomarker disease CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.300 Biomarker disease CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired 		0.300 Biomarker disease CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green 		0.300 Biomarker phenotype CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited 		0.300 Biomarker disease CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia 		0.300 Biomarker phenotype CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		0.110 GeneticVariation disease BEFREE Recently, the human PDE6H gene was identified as a novel locus for autosomal recessive (incomplete) color blindness. 25739440 2015