Disease Term Disease ID Gene Symbol References
Choanal Atresia C0008297 ARVCF
BCR
BRCA1
BRCA2
COMT
CRKL
DHCR7
DHODH
ERCC4
ERF
FANCA
FANCC
FANCD2
FANCE
BPTF 28942966
FANCB
FANCF
FANCG
FGF8
FGFR1
FGFR3
FGFR2
FOXE1 24219130
GAS1
GLI2
GLI3
GP1BB
IGBP1
IRF6
LMNA
KMT2A
NBN
NFIX
NODAL
POR
MAPK1
PTCH1
PTH1R
PTPN14
RAD21
RAD51
RAD51C
RPL11
RREB1
SHH
SIX3
TBX1
TCOF1
TDGF1
TGIF1
HIRA
TWIST1
UFD1
WNT3
XRCC2
ZIC2
USP9X
SMC1A
CDC45
OFD1
TP63
FOXH1
SMC3
EFTUD2
POLR1C
SEC24C
SEMA3E
PTDSS1 26117586
MED12
ZMPSTE24
MAD2L2
SPINT2
SMCHD1
NIPBL
POLR1A
TCTN3
DLL1
UBE2T
CDON
POLR1D
MBTPS2
SUFU
FANCL
RFWD3
SETD5
FANCI
CHD7
HDAC8
FAM20C
SALL4
ARID1B
FANCM
ZNF335
PALB2
ITCH
BRIP1
ANTXR1
SLX4
DISP1
JMJD1C
Bilateral choanal atresia/stenosis C4021884 DCHS1
TXNL4A
FAT4