PDE6H, phosphodiesterase 6H, 5149

N. diseases: 33; N. variants: 1
Disease: Cone monochromatism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.110 GeneticVariation disease BEFREE A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. 22901948 2012
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.110 CausalMutation disease CLINVAR
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.110 Biomarker disease HPO