Disease Term Disease ID Gene Symbol References
Keratoconus C0022578 ABCA4
AHR
ARL3
BBS2
CA4
CNGB1
CNGA1
COL3A1
CRX
FOXE3
FOXO1 23291589
GUCA1B
GUCY2D
HRAS
IDH3A
IDH3B
IMPDH1
KCNJ13
LMX1B
MAK
NEK2
NRL
PCYT1A
PDE6A
PDE6G
PDE6B
PLOD1
RBP3
PRPH2
RGR
RHO
RLBP1
ROM1
RP9
RP1
RP2
RPGR
RPE65
SAG
TUB
TULP1
USH2A
CLRN1
BEST1
IFT88
OFD1
PROM1
PRPF4
PRPF3
LRAT
IQCB1
IFT140
DHX38
NR2E3
TOPORS
MERTK
PRPF8
PRDM5
SNRNP200
UBXN4 21979947
ARHGEF18
CRB1
ARL2BP
AIPL1
PRPF6
FSCN2
PRPF31
IFT172
VSX1 15623752, 11978762
SCAPER
IMPG2
AHI1
POMGNT1
SPATA7
KIZ
KLHL7
RPGRIP1
KIAA1549
SLC7A14
AGBL5
PIEZO2
SEMA4A
FNDC3B 23291589
NMNAT1
ZNF408
DHDDS
MAP3K19 21979947
CEP290
SLC2A10
ARL6
FAM161A
ANTXR1
ZNF469
USP45
CDHR1
REEP6
TTC8
ZNF513
HGSNAT
RDH12
CFAP418
LCA5
RD3
EYS
CERKL
PCARE
GDF6
MIR184 26380287
PRCD
Keratoconus 1 C1835677 VSX1 15051220, 21976959, 19763142, 15623752, 19956409, 11978762, 18216574
ZNF469
KERATOCONUS 9 C4693660 TUBA3D
MZT2A