Achromatopsia

Disease Term Disease ID Gene Symbol Classification References Source
ACHROMATOPSIA
MONDO:0018852
ATF6 Causal — GenCC
CNGA3 Causal — GenCC
CNGB3 Causal — GenCC
GNAT2 Causal
12077706
GenCC
PDE6C Causal
19615668
GWAS catalog
NDRG4 Unknown
29320387
GWAS catalog
PDE6H Unknown
27472364 22901948
GenCC
ACHROMATOPSIA 2
MONDO:0009003
CNGA3 Causal
11536077 15790924 20301591 22183332 25637600 9662398
GWAS catalog
ACHROMATOPSIA 3
MONDO:0009875
CNGB3 Causal
12357335 26992781 10958649 15657609 15161866 10888875 15712225 28795510
GWAS catalog
ACHROMATOPSIA 4
MONDO:0013465
GNAT2 Causal
31058429
GWAS catalog
ACHROMATOPSIA 7
MONDO:0014677
ATF6 Causal
26063662 26029869 28812650
GWAS catalog
COMPLETE ACHROMATOPSIA
C5201048
CNGA3 Unknown — Disgenet