Disease Term Disease ID Gene Symbol References
Achromatopsia C0152200, 49382 CNGA3 14757870, 24903488, 26992781, 11536077, 17693388, 18445228, 15712225, 25943428, 23972307, 16961972, 30418171, 20079539, 28341476, 21778272, 25616768
GNAT2 12077706
HBB
PDE6C 19615668
PDE6H 25739440, 22901948
RPGR
ATF6 26063662, 26029869
CNNM4
NBAS
CNGB3 30418171, 15657609, 28795510, 30718709, 10888875
CABP4 30718709
Achromatopsia 2 C1857618 CNGA3 15743887, 26992781, 14757870, 25168900, 21778272, 15712225, 24148654, 29099798, 18445228, 24504161, 18521937, 11536077, 26493561, 9662398, 24903488, 25637600, 25616768, 26407004, 17693388
Achromatopsia 3 C1849792 COL11A1 8872475
CNGB3 10888875, 12357335, 15712225, 25616768, 12815043, 19592100, 25558076, 16319819, 28795510, 25558176, 10958649, 26992781, 15657609, 17652762, 14757870, 24148654, 20079539, 23776498, 26106334, 15459792, 17265047, 25205868, 20574029, 23805033
ACHROMATOPSIA 4 C1841721 GNAT2 21107338, 12077706
Achromatopsia 5 C2751309 PDE6C
ACHROMATOPSIA 6 C3552227 PDE6H
ACHROMATOPSIA 7 C4225297 ATF6 26029869, 26063662