Table S1. Expression of previously mapped and cloned retinal disease genes
Summary of retinal disease genes Total genes
Retinal disease genes mapped 124
Retinal disese genes cloned 71
Expression pattern of cloned disease genes
Rod-specific 26
Rod-enriched 7
Cone-specific 5
RPE-specific 6
Rod and RPE-enriched 2
Enriched in retina/cellular localization unknown 3
Widespread 19
Non-retinal 1
Retinal progenitors 2
Total 71
Total rod-specific+rod-enriched 33
This shows the full list of cloned, as well as mapped but uncloned, retinal disease genes.
Gene shows the Locus Link sympols for the gene or trait in question.�
Location indicates the chromosomal location of the gene or locus in question.�
Gene Location Cloned? Expression pattern
CNGA3, ACHM2, CNCG3, RMCH2 2q11 y cones
BCP, CBT 7q31.3-32 y cones
CNGB3, ACHM3 8q21-q22 y cones
GCP, CBD Xq28 y cones
RCP, CBP Xq28 y cones
NYX, CSNB1 Xp11.4 y Enriched in retina
USH2A 1q41 y Enriched in retina
USH1C, DFNB18 11p15.1 y Enriched in retina
RBP4 10q24 y Not in retina
PAX2, ONCR 10q25 y retinal progenitors
RB1 13q14.2 y retinal progenitors
MERTK; 2q14.1 y rod enriched
ELOVL4, STGD3 6q14 y Rod-enriched
RPGRIP1 14q11 y Rod-enriched
BBS4 15q22.3-q23 y Rod-enriched
PROML1 4p y Rod-enriched
SCA7, ADCA2, OPCA3 3p13-p12 y Rod-enriched
MKKS, BBS6 20p12 y Rod-enriched
CDH23, DFNB12, USH1D 10q21-q22 y rods
RHOK, RK 13q34 y rods
NRL, RP27 14q11.2 y rods
NR2E3, ESCS, PNR 15q23 y rods
CNGB1 16q13-q21 y Rods
AIPL1, LCA4 17p13.1 y rods
CRB1, RP12 1q31-q32.1 y Rods
SAG, RP 2q37.1 y Rods
GNAT1, CSNB 3p22 y Rods
RHO, RP4 3q21-q24 y Rods
CNGA1, CNCG, CNCG1 4p12-cen y Rods
PDE6B, CSNB3 4p16.3 y Rods
PDE6A 5q31.2-q34 y Rods
RDS, RP7 6p21.2-cen y Rods
TULP1, RP14 6p21.3 y Rods
RP1 8q11-q13 y Rods
CACNA1F, CSNB2, CSNBX2 Xp11.23 y Rods
RS1, XLRS1 Xp22.2 y Rods
PDE6G, PDEG 17q21.1 y rods
RPGR, RP3 Xp21.1 y Rods (5' end)/widespread (rest)
GUCY2D, CORD6, LCA1, RETGC, RETGC1 17p13.1 y Rods/cones
HRG4 17q11.2 y Rods/cones
CRX, CORD2 19q13.3 y Rods/cones
ABCA4, ABCR, RP19, STGD1 1p21-p22 y Rods/cones
GUCA1A, COD3, GCAP1 6p21.1 y Rods/cones
MYO7A, DFNB2, USH1B 11q13.5 y Rods/RPE enriched
TIMP3, SFD 22q12.1-q13.2 y Rods/RPE enriched
PCDH15 USH1F 10q21-q22 y Rods
RGR 10q23 y RPE
RDH5, RDH1 12q13-q14 y RPE
RPE65, LCA2, RP20 1p31 y RPE
EFEMP1, DHRD, MTLV 2p14-p13 y RPE
RLBP1, CRALBP 15q26 y RPE
VMD2 11q13 y RPE
PHYH, PAHX, RDPA 10p15.3-p12.2 y widespread
CLN3, JNCL 16p12.1 y widespread
ABCC6, ARA, MRP6, PXE 16p13.1 y widespread
RP13 17p13.3 y widespread
RP11 19q13.4 y widespread
JAG1, AGS 20p12 y widespread
USH3A 3q21-q25 y widespread
OPA1 3q28-q29 y widespread
WFS1 4p16.1 y widespread
MTP, ABL 4q24 y widespread
PEX1, IRD 7q21-q22 y widespread
TTPA 8q13.1-q13.3 y widespread
NDP, EVR2 Xp11.3 y widespread
DMD Xp21.2 y widespread
TIMM8A Xq22 y widespread
PGK1 Xq13.3 y widespread
CHM Xq21.1-q21.3 y widespread
OAT 10q26 y widespread
RP2 Xp11.3 y widespread
ACHM1, RMCH 14 n
RNANC 10q21 n
EVR3 11p13-p12 n
BBS1 11q13 n
ROM1 11q13 n
VRNI 11q13 n
EVR1, FEVR 11q13-q23 n
LCA3 14q24 n
USH1A, USH1 14q32 n
MRST 15q24 n
RP22 16p12.1-p12.3 n
BBS2 16q21 n
CACD 17p13 n
CORD5, RCD2 17p13-p12 n
CORD4 17q n
RP17 17q22 n
OPA4 18q12.2-q12.3 n
CORD1 18q21.1-q21.3 n
OPA3, MGA3 19q13.2-q13.3 n
CORD8 1q12-q24 n
RP18 1q13-q23 n
ARMD1; 1q25-q31 n
AXPC1 1q31-q32 n
USH1E 21q21 n
RP28 2p11-p16 n
BBS5 2q31 n
RP26 2q31-q33 n
BBS3 3p13-p12 n
STGD4 4p n
WFS2 4q22-q24 n
RP29 4q32-q34 n
BCD 4q35-qter n
WGN1, ERVR 5q13-q14 n
USH2C 5q14-q21 n
RP25 6cen-q15 n
CORD7 6q n
LCA5 6q11-q16 n
MCDR1, PBCRA 6q14-q16.2 n
RCD1 6q25-q26 n
RP9 7p15-p13 n
CYMD 7p21-p15 n
RP10 7q31.3 n
CORD9 8p12-q11 n
COD1 Xp11.3-p11.23 n
PRD Xp11.3-p11.23 n
OPA2 Xp11.4-p11.2 n
AIED, OA2 Xp11.4-q21 n
RP6 Xp21.3-p21.2 n
RP23 Xp22 n
RP24 Xq26-q27 n
COD2, XLPCD Xq27 n
AA 11p15 n
USH2B 3p24.2-p23 n