Disease Term Disease ID Gene Symbol References
Congenital small ears C0152423 AGA
RERE
ATRX
NKX3-2 9426254
BMP2
BMP5
CDC6 9566895
DHODH 21851494
DYRK1A
EDNRA 20583178
EVC
EYA1 9603436
BPTF
FKTN
FGF3
FGF10 9988217
FGFR3 16501574
FGFR2 16501574
GABRD
GATA1
GBA
GLI3
GNAI3 7698751
HMX1 9337406
HNRNPK
HOXA2 23775976
HOXA13
HSPA9
LETM1
SMAD4
MCM5
KMT2A
MSX2
ORC1 8943353
ORC4 9691185
OTX2 9174161
PAK1
PBX1
PCNT
PEX6
PIK3CA
PLCB4 22560091
PLEC
POLE
PSMD12
RPS28
SALL1 9973281
SIX1 9770533
SKI
TCOF1 9736782
TFAP2A 8824807
TWIST1
KDM6A
NSD2
NELFA
WNT3
PCGF2
KMT2D 9247308
RBM10
CDC45
KCNAB2
TP63
DCHS1
LARGE1
EFTUD2 9233818
COG1
CHST3
POLR1C 9653160
TTC37
SEMA3E
EIF4A3 9449664
MED12
SF3B4 24003905
ZMPSTE24
POMT1
STAG2
MAPRE2
WIF1
CNOT1
ADNP
GRIP1 16880404
PIGN
LEMD3 9295073
ORC6 7710253
POLR1A
POC1A
AUTS2
B3GAT3
INTU
POMT2
PAM16
GMNN 26637980
POLR1D 8955128
ABHD5
NIN
DACT1
ASXL2
CHD7 25119037
MBD5
LMBRD1
CENPJ
HDAC8
KIF15
TWSG1 11260717
PRDM16
FKRP
FAT4
FRAS1 8055142
FBXO11
CDT1 15286659
LAS1L
RSPRY1
TSR2
HS6ST2
TWIST2
AMER1
GSC 9144415
SIX5 9949207
ASXL1
KCTD1
RSPO2
FREM2 15838507
FOXI3
GDF6
CRPPA
RNU4ATAC