PDE6H, phosphodiesterase 6H, 5149

N. diseases: 33; N. variants: 1
Disease: Achromatopsia ×
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