Cone dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Cone Dystrophy C0730290 ABCA4 Causal Pathogenic evidence from ClinVar 9054934, 10958761, 24265693 ClinVar
ABHD12 Causal Pathogenic evidence from ClinVar - ClinVar
BBS5 Causal Pathogenic evidence from ClinVar 15137946 ClinVar
CABP4 Causal Pathogenic evidence from ClinVar - ClinVar
CFAP410 Causal Pathogenic evidence from ClinVar - ClinVar
CNGA3 Causal Pathogenic evidence from ClinVar 18521937 ClinVar
GUCY2D Causal Pathogenic evidence from ClinVar 18055820 ClinVar
NMNAT1 Causal Pathogenic evidence from ClinVar - ClinVar
PITPNM3 Causal Pathogenic evidence from ClinVar - ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar - ClinVar
RPGR Causal Pathogenic evidence from ClinVar - ClinVar
ARL6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CERKL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CNNM4 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 - -
POMZP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28041643 -
RAB28 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23746546, 25356532 -
SRD5A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Progressive cone dystrophy 1871 GNAT2 Causal Pathogenic evidence from ClinVar - ClinVar
PDE6C Causal Pathogenic evidence from ClinVar - ClinVar
CNGB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GUCA1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CONE DYSTROPHY 3 (disorder) C1865869 KCNV2 Causal Pathogenic evidence from ClinVar - ClinVar
GUCA1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9425234, 11108966, 11146732, 11484154, 15505030, 15735604, 15790869, 19459154 -
CONE DYSTROPHY 4 (disorder) C2751308 PDE6C Causal Pathogenic evidence from ClinVar 19615668, 21127010, 28583373 ClinVar
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) C2751764 AIPL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -