Congenital coloboma of iris

Disease Term Disease ID Gene Symbol References
Congenital coloboma of iris C0266551 ACTB
ACTG1 28493397
ALX3
ANK1
ARL3
ATP6V1A
BMP4
CENPF
CHN1
COL4A1
COX7B
CRYAA
CRYBA4
CRYBB1
CRYBB2
CRYGC
CRYGD
DAG1
DHCR7
ERF
FKTN
FGF3
FGF8
FGFR1
FGFR2
FLI1
FLNA
GAS1
GJA8
GLI2
GNAQ
HCCS
HRAS
IGBP1
KRAS
LETM1
LRP2
MAF
MMP2
MMP14
NODAL
NOTCH2
NOTCH3
NPHP1
NRAS
ROR1
PAX6 16604056, 12721955
PTCH1
RB1
RBP4
SALL2 24412933
SALL1
SHH
SIX3
SMO
SOX2
TCOF1
TDGF1
TFAP2A
TGIF1
TSC1
TSC2
NSD2
NELFA
WNT3
ZIC2
FZD5 26908622
AAAS
NAA10
PTCH2
MPDZ
FOXH1
LARGE1
POLR1C
GDF3
SEMA3E
CEP104
KIAA0586
ZEB2
WASHC5
MAFB
ABCB6 22226084
ALG3
RXYLT1
YAP1
PIBF1
POMT1
PNPLA6
B4GAT1
ZNF423
POGZ
KATNIP
RPGRIP1L
SMCHD1
ADNP
SIN3A
KIFBP
B9D1
DLL1
CCDC22
GMPPA
POMT2
CDON
TBX22
POLR1D
TMEM216
DACT1
MBTPS2
TMEM138
SUFU
NDUFB11
AHI1
BCOR
MKS1
POMGNT1
CHD7
TENM3
INPP5E
SALL4
CC2D2A
TRAPPC11
PORCN
TMEM237
CPLANE1
FKRP
TMEM231
TCTN1
SRD5A3
CSPP1
TCTN2
CEP290
ARMC9
POMK
COL25A1
POMGNT2
DISP1
ALG2
TMEM67
CEP41
C12orf57
B3GLCT
B3GALNT2
CEP120
VPS13B
ARL13B
HYLS1
RSPO2
CRPPA