Microphthalmos

Disease Term Disease ID Gene Symbol References
Microphthalmos C0026010 ALDH1A3
ALX3
ARVCF
BMP4
FOXL2
BRCA1
BRCA2
BUB1
BUB1B
MYRF 31048900, 31700225
CENPF
COL4A1
COMT
COX7B
CRYGC
DAG1
DPYD
DYRK1A
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6 10739753
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FKTN
FGF3
FGFR1
FOXE3
GJA1
GLI2
GLI3
GP1BB
HCCS
HMGB3
HMX1 19379485
HRAS
RBPJ
KIF11
KRAS
LRP5
MITF
ALDH6A1
NDP
NHS
NOTCH1
NRAS
OCRL
SIX6
OTX2
PAX2
PAX6 29178648
PDE6D
PEX6
PEX7
PHYH
PIK3CA
PITX3 16565358
PPP2R1A
PTCH1
RAD51
RAD51C
RARB
RB1
RBBP8
RBP4 29178648
RREB1
SALL1
SHH
SIX3
SMO
SOX2
TBX1
TBX15
TCOF1
TFAP2A
HIRA
UFD1
BEST1 19375515
WNT3
WNT7B
XRCC2
KMT2D 27530281
ALX1
NAA10
IKBKG
PTCH2
CTDP1
BUB3
LARGE1
TRIP13
RECQL4
POLR1C
GDF3
SEC24C
CEP57
SEMA3E
ZEB2
KIF14
HDAC6
RXYLT1
YAP1
MAD2L2
POMT1
MAB21L2
EBP
TBR1
PLK4
MAPRE2
VAX1
B4GAT1
RAB3GAP1
RAB18
RPGRIP1L
SMCHD1
CRB1 19375515
GRIP1
PIGN
RAB3GAP2
SIN3A
SH2B1
TMEM98 24852644
PHGDH
B9D1
INTU
TUBGCP4
UBE2T
GMPPB
POMT2
SLC25A24
DONSON
RAX
WDPCP
POLR1D
TMEM216
DACT1
MBTPS2
SUFU
NDUFB11
MAGEL2
DLL4
BCOR
MKS1
FANCL
RFWD3
CEP55
SETD5
FANCI
POMGNT1
CHD7
OSGEP
TENM3
SMG9
RPGRIP1
SALL4
ARHGAP31
CC2D2A
DOCK6
FANCM
ALX4
PIEZO2
FAM111A
SMOC1
XYLT2
STRA6 18316031
PORCN
TMEM237
FKRP
TMEM231
TBL1XR1
PALB2
CSPP1
TCTN2
FRAS1
CEP290
B9D2
MFRP 15976030
BRIP1
POMK
TMEM107
SLX4
POMGNT2
WDR73
TUBGCP6
TMEM67
SYCE1
C12orf57
TBC1D20
B3GALNT2
CEP120
ESCO2
VPS13B
FREM1
TUBB
HYLS1
ATOH7
JMJD1C
EOGT
FFAR4 29178648
VSX2 26893459
RSPO2
FREM2
KIF7
GDF6
PRSS56 21532570, 21850159
CRPPA
Microphthalmos, Autosomal Recessive C4551977 ALDH1A3 23312594
SIX6
OTX2 24033328
SOX2 24033328
GDF3 19864492
RAX 24033328
VSX2 10932181
Bilateral microphthalmos C1843496 ERCC1
ERCC2
ERCC3
GJA1
GTF2E2
KMT2A
PEX6
PTCH1
SHH
TCOF1
RNF113A
GDF3
FIG4
PUF60
RTTN
VAC14
FAM111A
STRA6
FRAS1
MPLKIP
GDF6
GTF2H5
Unilateral microphthalmos C3640024 PAX6