Disease Term Disease ID Gene Symbol References
Macular dystrophy C0730292 ABCA4 14517951, 9781034, 9295268, 30718709, 20960624, 10874631, 25312043, 15614537, 11527935
CDH3 14708629
CNGA1 30718709
CRX
EFEMP1
GUCA1A 9425234, 30718709
IMPG1
PRPH2 30718709, 9279751
RP2 18552978
RPGR
SLC19A1
USH2A 30718709
BEST1 30718709
PROM1 30718709
RAB28 25356532, 23746546
ATF6
CRB1 29391521, 15024725, 17297678
IMPG2 30718709
CNGB3
CEP290
COL18A1
NIPAL1 30718709
EYS
CERKL
PCARE