Retinal dystrophy

Disease Term Disease ID Gene Symbol References
Retinal Dystrophies C0854723 ABCA4 25312043, 10958763, 9973280, 22229821, 23982839, 25066811, 11594993, 26872967, 9054934, 21911583, 23918662, 30718709, 11379881, 10090887, 9781034, 15614537, 9295268, 11328725
ACO2
ANK1
BBS1 12118255, 26872967
BBS2 30718709
BMP4
CFAP410
CACNA1F 25307992
CHM
CNGB1
CNGA1
CNGA3
COL4A1
COX7B
CRX
DAG1
EFEMP1
FKTN
FUT5 28041643
GRN
GUCA1A
GUCY2D 11565546
HCCS
KIF11
LRP2
MYO7A
NPHP1
SIX6
OTX2
PDE6B
PEX6
PEX10
PGK1
PRPS1 28967191
RBP3 26872967
RBP4
PRPH2 24608669
RGR 10581022
RLBP1
RP1 30718709
RP2 10053026, 12657579
RPGR 26872967, 11857109
RPE65 18599565, 9326941
RS1 26872967
SGSH
SLC19A1
CDKL5 26872967
TUB
USH2A 26872967, 17405132, 10775529
CLRN1
BEST1 23290749
RNF113A
ALMS1
PROM1 26872967, 18654668, 24154662, 25356976, 26103963, 19718270, 22025579
LARGE1
LRAT
PEX16
ITM2B
IQCB1 15723066
KIAA0586
NR2E3
TOPORS 26872967
RXYLT1
MERTK
SLC19A2
POMT1
PRPF8
SDCCAG8
PNPLA6
B4GAT1
CEP164
ZNF423
TTLL5
RPGRIP1L
CRB1 18055820, 30718709, 20591486, 10508521
PHF3 26872967
ZFYVE26 15258582
ARL2BP
ABHD12 22938382
PRPF31 26872967
TRAF3IP1
NPHP3
INVS
POMT2
IMPG2 20673862
PLLP
RDH11
TMEM216
TMEM138
NDUFB11
CNGB3 10888875
AHI1
MKS1
BBS7
RCBTB1
POMGNT1
PEX26
IFT122
INPP5E
CABP4
RPGRIP1 12920076
HACE1
CC2D2A
WDR19
CDH23
NMNAT1
TMEM237
CCDC28B
FKRP
TMEM231
BBS10
CSPP1
PODNL1 28041643
PGAP1
CEP290 17564967
ALPK1 30967659
COL18A1
MFRP
ADGRV1
FAM161A 30718709
POMK
POMGNT2
TUBGCP6
LRRCC1
CDHR1 20087419, 30718709
CEP41
C1QTNF5
CLRN1-AS1
DRAM2
HGSNAT 19479962, 17033958
RDH12 18048336, 15258582
B3GALNT2
NIPAL1
CEP120
VPS13B
BBS12
LCA5 23946133, 25412400
KCNV2 21882291
ARL13B
ZDHHC24 26872967, 12118255
NPHP4
POC1B 24945461, 25044745, 25018096
LAMA1
EYS 26872967
CERKL 14681825, 18978954
PCARE 20398886
CRPPA
RNU4ATAC
Retinal Dystrophy, Early Onset Severe C1858080 ABCA4
RPE65
LRAT 22570351
SPATA7 21310915
LCA5 23946133
Retinal Dystrophy, Early-Onset Severe, Lrat-Related C2750064 LRAT
Severe early-childhood-onset retinal dystrophy 364055 RPE65
LCA5
LRAT
SPATA7