Disease: Achromatopsia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achromatopsia
CUI: C0152200
Disease: Achromatopsia
0.700 CausalMutation CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015