Progressive cone dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Progressive cone dystrophy (without rod involvement) C0271092 ABCA4 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
CACNA1F Causal Pathogenic evidence from ClinVar 30718709 ClinVar
KCNV2 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
MKKS Causal Pathogenic evidence from ClinVar 30718709 ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
CNGB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15161866 -
GNAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14609822 -
GUCA1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9425234, 15735604 -
PDE6C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19615668 -