Disease Term Disease ID Gene Symbol References
Disorder of eye C0015397 ABCA4
BBS1
BBS2
BBS4
BMP4
CA4 15090652
CACNA1F
CDH3
CHM
TPP1
CLN3
CLN5
CNGB1
CNGA1
CNGA3 24504161
COL2A1 18541977
COL4A1
COL9A1
COL9A2
COL11A1
COL11A2
CRX
VCAN
CTSD
CYP1B1
CYP27A1
TIMM8A
CLN8
EFEMP1
FOXC1
FOXE3
GNAT1
GNAT2
GRN
GRM6
GUCA1A
GUCA1B 21405999
GUCY2D
HARS1
HCCS
IDH3B
IMPDH1
KCNJ13
LRP5 29131652
MAK 21148103
TRPM1
MTTP
MYO7A
MYOC
NDP 29617172
NPHP1
NRL
GPR143 19390656
OAT
OCA2
OPA1
OTX2
PAX6
PDE6A
PDE6C
PDE6G
PDE6H 25739440
PDE6B
PEX7
PHYH
PITX2
PITX3 20033184
PLA2G5
POMC 4340068
PPT1
RBP3
RBP4
RDH5
PRPH2
RGR
RHO
RLBP1
ROM1
RP9
RP1 15863674
RP2 21738648
RPGR
RPE65
RS1
SAG
SOX2
ELOVL4
TIMP3
TULP1
TYR 28778995
TYRP1 10644000
USH2A
CLRN1
BEST1 15452077
WFS1
WT1
ALMS1
MKKS
FZD4 28413837
OFD1
ADAM9 25091951
RGS9
PROM1
UNC119
PRPF3
SLC24A1
LRAT
IQCB1
MFN2
NR2E3
USH1C
TOPORS
MERTK
CIB2
PRPF8
SDCCAG8
VAX1
TRIM32
RIMS1 28677725
SNRNP200
ZNF423
RPGRIP1L 17558409, 17558407
ATP13A2
CRB1 21484995
GRIP1 22510445
TSPAN12
AIPL1 25148430
PRPF6
FSCN2
WHRN
ABHD12
PRPF31
TCTN3
CNNM4 27419834
NPHP3
INVS
BBS9
FLVCR1
IMPG2
WDPCP
SLC45A2
TMEM216
LZTFL1
CNGB3
AHI1
BCOR
MKS1 23454480
CLN6
BBS7
SPATA7
KLHL7
CABP4
RPGRIP1
CC2D2A
NYX
CDH23
SMOC1
SEMA4A 16199541
STRA6
TMEM237
PCDH15
CPLANE1
TCTN1
BBS10
TTC21B
TCTN2
DHDDS
PDZD7
FRAS1
CEP290 17345604
OPA3
PITPNM3
MFRP
LRMDA
ADGRV1
ARL6 19097054
FAM161A
TMEM126A
RAX2
TMEM67
CDHR1
CACNA2D4
CEP41
C1QTNF5
TTC8
USH1G
BBS5
ZNF513
B3GLCT 18798333
RDH12 31505163, 22065924
KCTD7
CFAP418
FREM1
BBS12
LCA5
KCNV2
ARL13B
MFSD8 25227500
NPHP4
SLC24A5
CYP4V2
VSX2
FREM2 15838507
RD3
LRIT3
EYS
KIF7
CERKL
RGS9BP
PCARE
GPR179
PRCD