Disease Term Disease ID Gene Symbol References
MACULAR DEGENERATION, AGE-RELATED, 14 C3809653 CFB
C2
Age-Related Macular Degeneration type 11 C2677774 CST3 11815350, 2764935, 19838169
MACULAR DEGENERATION, AGE-RELATED, 12 C3151079 CX3CR1
MACULAR DEGENERATION, AGE-RELATED, 5 C3151063 ERCC6
Macular Degeneration, Age-Related, 7 C1857813 HTRA1
MACULAR DEGENERATION, AGE-RELATED, 3 C1837187 FBLN5
MACULAR DEGENERATION, AGE-RELATED, 8 C3151070 ARMS2
Age related macular degeneration C0242383 ABCA1 26691988, 21665990
ABCA4 16968212
ALDH3A2
APOE 16453339, 26691988
ABCC6
CFB 22694956, 22705344, 23577725, 20385826, 16518403, 21665990
C2 22705344, 20385819, 21665990, 16518403, 22694956, 23577725
C3 17767156, 20385826, 23455636, 20861866, 29346644, 24036952, 20385819, 24036949, 24036950, 22705344, 26691988, 21665990
C9 26691988, 24036952
CDH3
CETP 23455636, 26691988
CLN3
CNN2 26691988
COL4A3 26691988
COL8A1 21665990, 23455636, 26691988
COL10A1 23455636
CST3
CYP21A2 21909106, 20385819, 22705344, 29346644, 22694956, 20385826, 26691988, 20861866, 23577725, 21665990, 23455636
ERCC2
ERCC3
ERCC6 16754848
FBN2
FUT6 26691988
GTF2E2
CFH 21909106, 20385819, 20385826, 22705344, 16754848, 20861866, 22694956, 23326517, 21665990, 23577725, 17554167, 16518403, 29346644, 23455636, 15761122, 22019782, 28703135, 22125219, 26691988
CFHR1 23326517
CFHR2 23326517
HIC1 30742112
CFI 26691988, 24036952, 23685748
IMPG1
LIPC 26691988
CHST6
TRPM1 28813576
TRNE
TRNK
TRNL1
MYO5A
NOTCH4 22694956
PBX2 26691988
PPT1
HTRA1 17053108, 20385819, 23326517, 23577725, 28703135, 29346644
NECTIN2 23326517
RAD51B 23455636, 26691988
RDH5 26691988
PRPH2
REST 21909106
RLBP1 30742112
RPGR 12160730
RREB1 20385826
ATXN7
SKIV2L 20385819, 22694956, 20861866, 23577725, 21909106, 26691988, 23455636, 29346644
SRPK2 26691988
ELOVL4
TGFBR1 23455636
TIMP3 26691988
TLR4 15829498
TNXB 22694956
VEGFA 15788408
BEST1
RNF113A
NELFE 23577725
DPF3 29346644
SYN3 20385819, 23455636, 20385826, 21665990, 26691988
TNFRSF10A 21909106
PROM1
ALDH1A2 21665990, 20385819, 20385826, 23455636, 26691988
STK19 26691988
SQSTM1 23922739
HERC1 29346644
ATP6V0D1 29346644
HS3ST4 29346644
TOMM40 23326517, 22694956
FBLN5
FTCD 31120506
CFHR4 23577725, 22125219, 20861866, 23326517, 28822440, 21197116
CFHR3 23326517
ABHD2 28813576
ZFYVE26
SLC16A8 26691988, 23455636
TRAF3IP1
BBS9 29346644
TMEM97 26691988
PILRA 26691988
SCAPER
IMPG2
CNGB3
MCUB 23455636
ANO10
NPLOC4 26691988
RPGRIP1
ARHGAP21 26691988
MARK4 26691988
PLEKHA1 23577725, 23326517
XYLT1
XYLT2
SEMA4A
PARP12 30742112
NMNAT1 22842229
TRPM3 26691988
SPG11
ACAD10 26691988
COL18A1
CFHR5 23326517, 20861866, 26691988, 23577725
PLA2G12A 20385819
PITPNM3
HMCN1
CEP78
RAX2
EXOC3L2 26691988
CCNQ
SYCE1
RP1L1
C1QTNF5 16123441
TTC8
BBS5
MPLKIP
B3GLCT 23455636, 26691988
NT5DC1 23455636
MFSD8
KCNT2 26691988, 23577725, 23326517
ARMS2 17884985, 22705344, 28703135, 23455636, 21665990, 21909106, 22694956, 18511946, 23577725, 23326517, 26691988, 20861866, 20385826, 17053108
LINC00243 23455636
GTF2H5
MFF-DT 26691988
PRCD
ADAMTS9-AS2 26691988, 23455636
DISC1FP1 31120506
C2-AS1 20385819, 22694956, 22705344, 21665990
Macular Degeneration, Age-Related, 2 C3495438 ABCA4 9295268, 19028736
TRNL1
Macular Degeneration, Age-Related, 1 C1864205 APOE
CFHR1
CFHR3
HMCN1 14570714
Macular Degeneration, Age-Related, 9 C1969651 C3 24036952, 17634448
MACULAR DEGENERATION, AGE-RELATED, 15 C3810042 C9 24036952
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) C1853147 CFH 25814826, 24036949, 24498017, 22019782, 12697737
MACULAR DEGENERATION, AGE-RELATED, 13 C3809523 CFI 23685748, 24142231
Macular Degeneration, Age-Related, 6 C3151060 RAX2 15028672
NON RARE IN EUROPE: Age-related macular degeneration 279 ABCA4
CFH
CFI
FBN2
HMCN1
HTRA1
CFB
C3
C9
ARMS2
CX3CR1
FBLN5