Disease Term Disease ID Gene Symbol References
Aniridia C0003076 BRCA2
CHN1
DLST
DLX5
DLX6
FH
FOXC1 19279310, 27124303
FOXE3
GPC3
ITPR1
MAX
MDH2
PAX6 10234503, 9931324, 18322702, 9792406, 11309364, 2855731, 11553050, 10737978, 17148041, 12634864, 8364574, 25342853, 11826019, 9147640, 24033328, 9856761, 9138149, 17406642, 17595013, 12552561, 9281415, 7550230, 16493447, 21850189, 30221735
PITX2
REST
RET
SDHA
SDHB
SDHC
SDHD
VHL
WNT10B
WT1
SEM1
SLC25A11
TP63
BTRC
TRIP13
MAFB
TRIM28
POU6F2
KIF1B
ELP4
FOXD3 22815627
TRIM44 26394807
SDHAF2
TMEM127
EPS15L1
FAM111A
PORCN
COL25A1
DIS3L2
LDHD
H19
Aniridia type 1 C0344542 PAX6 18241071, 27431685, 23761016, 16712695, 26535646, 20577777, 22692063, 9792406, 11309364, 9482572, 18483559, 21423868, 12634864, 24737507, 27455012, 19898691, 10737978, 27307692, 28321846, 26849621, 8364574, 8111279, 26661695, 10234503, 21850189, 15579687, 29618921, 15889018, 21397818, 19862335, 27081502, 12552561
WT1
ELP4 12552561, 27431685, 29618921, 11309364, 28321846
Aniridia type 2 C0344543 ELP4 24290376, 29217025
ANIRIDIA 3 C4310695 TRIM44 26394807