PDE6H, phosphodiesterase 6H, 5149

N. diseases: 33; N. variants: 1
Disease: Cone Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.110 GeneticVariation disease BEFREE We found a heterozygous G to C substitution in the 5' untranslated region (UTR) of the PDE6H gene in the DNA of a patient with a distinctive form of cone dystrophy, her sibling, and their father. 15629837 2005
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.110 Biomarker disease HPO