Retinopathy

Disease Term Disease ID Gene Symbol Classification References Source
ABCA4-RELATED RETINOPATHY
MONDO:0800406
ABCA4 Causal
10412977 10888868 10958761 15494742 18285826 20238056 22735453 22886305 24707049 26527198 28559085 9054934 9092582 9466990 9781034
GWAS catalog
ADAM9-RELATED RETINOPATHY
MONDO:0800398
ADAM9 Unknown
11162558 11581183 19273593 19409519 20691256 23661369 25091951 30239781
Disgenet
AIPL1-RELATED RETINOPATHY
MONDO:0100438
AIPL1 Causal
10615133 15347646 15582159 25596619 26650897
GWAS catalog
EYS-RELATED RETINOPATHY
MONDO:0800391
EYS Causal
18836446 18976725 20237254 20333770 20537394 21069908 24652164 27846257 28378834 28704921 29550188 30052645 31074760 33833316 35410372 36140798
ClinGen GenCC
RETINOPATHY
EFO_0003839
ABLIM3 Unknown
39024449
GWAS catalog
ANKRD7 Unknown
39024449
GWAS catalog
ARMS2 Unknown
39024449 40465716
GWAS catalog
C14ORF39 Unknown
39024449
GWAS catalog
C2 Unknown
39024449
GWAS catalog
C3 Unknown
39024449
GWAS catalog
CAMK1D Unknown
38548946
GWAS catalog
CD46 Unknown
39024449
GWAS catalog
CELF2 Unknown
39024449
GWAS catalog
CETP Unknown
39024449
GWAS catalog
CFH Unknown
39024449
GWAS catalog
CFI Unknown
39024449
GWAS catalog
CLSTN2 Unknown
39024449
GWAS catalog
COL22A1 Unknown
39024449
GWAS catalog
COL4A2 Unknown
39024449
GWAS catalog
COL4A4 Unknown
39024449
GWAS catalog
CPLX4 Unknown
39024449
GWAS catalog
CYP7B1 Unknown
23393555
GWAS catalog
DHX36 Unknown
39024449
GWAS catalog
FAT3 Unknown
39024449
GWAS catalog
FOLH1 Unknown
39024449
GWAS catalog
FOXL1 Unknown
39024449
GWAS catalog
FTO Unknown
39024449
GWAS catalog
HDAC9 Unknown
23393555
GWAS catalog
HLA-DQA1 Unknown
39024449
GWAS catalog
HLA-DRB1 Unknown
39024449
GWAS catalog
KLHL22 Unknown
23393555
GWAS catalog
LPAR1 Unknown
39024449
GWAS catalog
NRG3 Unknown
23393555
GWAS catalog
OR5V1 Unknown
23393555
GWAS catalog
PDGFB Unknown
39024449
GWAS catalog
PEBP4 Unknown
39024449
GWAS catalog
PTHLH Unknown
23393555
GWAS catalog
RAB11FIP2 Unknown
32541925
GWAS catalog
RD3 Unknown
23393555
GWAS catalog
RDH5 Unknown
39024449
GWAS catalog
ROBO3 Unknown
39024449
GWAS catalog
RPL3 Unknown
39024449
GWAS catalog
RXFP2 Unknown
40465716
GWAS catalog
SLC30A1 Unknown
23393555
GWAS catalog
SRC Unknown
23393555
GWAS catalog
TCF7L2 Unknown
32541925
GWAS catalog
TENM4 Unknown
23393555
GWAS catalog
WWOX Unknown
40465716
GWAS catalog
RP1-RELATED DOMINANT RETINOPATHY
MONDO:0800400
RP1 Unknown
10391211 10391212 10484783
ClinGen GenCC
RP1-RELATED RECESSIVE RETINOPATHY
MONDO:0800399
RP1 Causal — ClinGen GenCC