Macular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Macular dystrophy C0730292 ABCA4 Causal Pathogenic evidence from ClinVar 9295268, 9781034, 10874631, 11527935, 14517951, 15614537, 20960624, 25312043, 30718709 ClinVar
ATF6 Causal Pathogenic evidence from ClinVar - ClinVar
BEST1 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
CDH3 Causal Pathogenic evidence from ClinVar 14708629 ClinVar
CNGA1 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
CNGB3 Causal Pathogenic evidence from ClinVar - ClinVar
COL18A1 Causal Pathogenic evidence from ClinVar - ClinVar
CRB1 Causal Pathogenic evidence from ClinVar 15024725, 17297678, 29391521 ClinVar
CRX Causal Pathogenic evidence from ClinVar - ClinVar
EYS Causal Pathogenic evidence from ClinVar - ClinVar
IMPG1 Causal Pathogenic evidence from ClinVar - ClinVar
IMPG2 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
PROM1 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar 9279751, 30718709 ClinVar
RPGR Causal Pathogenic evidence from ClinVar - ClinVar
USH2A Causal Pathogenic evidence from ClinVar 30718709 ClinVar
CEP290 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 - -
EFEMP1 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 9425234, 30718709 -
NIPAL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30718709 -
PCARE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RAB28 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23746546, 25356532 -
RP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18552978 -
SLC19A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -