Achromatopsia

Disease Term Disease ID Gene Symbol Classification References Source
Achromatopsia 49382, C0152200 ATF6 Causal Pathogenic evidence from ClinVar 26029869, 26063662 ClinVar
CABP4 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
CNGA3 Causal Pathogenic evidence from ClinVar 11536077, 14757870, 15712225, 16961972, 17693388, 18445228, 20079539, 21778272, 23972307, 24903488, 25616768, 25943428, 26992781, 28341476, 30418171 ClinVar
CNGB3 Causal Pathogenic evidence from ClinVar 10888875, 15657609, 28795510, 30418171, 30718709 ClinVar
GNAT2 Causal Pathogenic evidence from ClinVar 12077706 ClinVar
PDE6C Causal Pathogenic evidence from ClinVar 19615668 ClinVar
CNNM4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HBB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NBAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDE6H Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22901948, 25739440 -
RPGR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACHROMATOPSIA 7 C4225297 ATF6 Causal Pathogenic evidence from ClinVar 26029869, 26063662 ClinVar
Achromatopsia 2 C1857618 CNGA3 Causal Pathogenic evidence from ClinVar 9662398, 11536077, 14757870, 15712225, 15743887, 17693388, 18445228, 18521937, 21778272, 24148654, 24504161, 24903488, 25168900, 25616768, 25637600, 26407004, 26493561, 26992781, 29099798 ClinVar
Achromatopsia 3 C1849792 CNGB3 Causal Pathogenic evidence from ClinVar 10888875, 10958649, 12357335, 12815043, 14757870, 15459792, 15657609, 15712225, 16319819, 17265047, 17652762, 19592100, 20079539, 20574029, 23776498, 23805033, 24148654, 25205868, 25558076, 25558176, 25616768, 26106334, 26992781, 28795510 ClinVar
COL11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8872475 -
ACHROMATOPSIA 4 C1841721 GNAT2 Causal Pathogenic evidence from ClinVar 12077706, 21107338 ClinVar
Achromatopsia 5 C2751309 PDE6C Causal Pathogenic evidence from ClinVar - ClinVar
ACHROMATOPSIA 6 C3552227 PDE6H Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -