Retinal diseases genetic variants registry
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List of genes we are working on
ABCA4
ABHD12
ADAM9
ADGRV1
ADIPOR1
AGBL5
AHI1
AHR
AIPL1
ARHGEF18
ARL2BP
ARL3
ARL6
ARSG
ATF6
ATOH7
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BEST1
C1QTNF5
C21orf2
C8orf37
CA4
CABP4
CACNA1F
CACNA2D4
CAPN5
CCT2
CDH23
CDHR1
CEP19
CEP250
CEP290
CEP78
CERKL
CHM
CIB2
CLCC1
CLN3
CLRN1
CLUAP1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
CRB1
CRX
CTNNA1
CTNNB1
CWC27
CYP4V2
DFNB31
DHDDS
DHX38
DRAM2
DTHD1
EFEMP1
ELOVL4
EMC1
ESPN
EYS
FAM161A
FZD4
GDF6
GDPD1
GNAT1
GNAT2
GNB3
GPR125
GPR179
GRK1
GRM6
GUCA1A
GUCY2D
HARS
HGSNAT
HK1
HMCN1
IDH3A
IDH3B
IFT140
IFT172
IFT27
IFT43
IFT74
IFT81
ILK
IMPDH1
IMPG1
IMPG2
IQCB1
ITM2B
JAG1
KCNJ13
KCNV2
KIAA1549
KIF11
KIF3B
KIZ
KLHL7
LCA5
LRAT
LRIT3
LRP5
LZTFL1
MAK
MERTK
MFRP
MFSD8
MIR204
MKKS
MKS1
MVK
MYO7A
NDP
NEK2
NEUROD1
NMNAT1
NPHP1
NR2E3
NRL
NYX
OAT
OFD1
OTX2
PANK2
PCARE
PCDH15
PDE6A
PDE6B
PDE6C
PDE6G
PDE6H
PDZD7
PITPNM3
POC1B
POMGNT1
PRCD
PRDM13
PROM1
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2
RAB28
RAX2
RBP3
RCBTB1
RD3
RDH12
RDH5
REEP6
RGR
RHO
RIMS1
RIMS2
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
RPGRIP1
RS1
SAG
SAMD11
SCAPER
SDCCAG8
SLC24A1
SLC7A14
SNRNP200
SPATA7
SPP2
TEAD1
TIMP3
TOPORS
TRIM32
TRNT1
TRPM1
TSPAN12
TTC8
TTLL5
TULP1
UNC119
USH1C
USH1G
USH2A
VCAN
WDPCP
ZNF408
ZNF513