Brachycephaly

Disease Term Disease ID Gene Symbol References
Brachycephaly C0221356 ACOX1
ADSL
AGA
ATIC
RERE
ATP7A
ATRX
BMP2 23160099
BRAF
BUB1B
RUNX2
CD19
MS4A1
CD81
CDH11
COL11A1
CR2
CTSK
EFNB1 15166289
ERF 23354439
EXT2
EZH2 26424790
FBN1
FBN2
FKTN
FGFR1
FGFR3 10914960
FGFR2 8957519, 9605588, 16465081
FLII
FUCA1
GABRD
GATA1
GJA1
GRIA3
HCFC1
HNRNPK
HSPA9
LIG4
LRP5
SMAD6
MAF
MECP2
MGAT2
KMT2A
MMP2
MMP14
NELL1 14672347
NFKB1
NFKB2
PDE4D
POR
PRKAR1A
PRKCD
PTCH1
PTH1R
PTPN11
ALDH18A1
RAD21
RAF1
RMRP
SCN8A
SIM1
SKI
SMS
SOS1
TBX2
TCF4
TCF12 23354436
TCF20
TCOF1
TWIST1 17343269, 12221714
UBE3A
XRCC4
ZIC1 26340333
PCGF2
ALX1
USP9X
SMC1A
KCNAB2
PTCH2
TNFSF12
SMC3
NRXN1
CHST3
PIGL
MPDU1
POLR1C
TECPR2
WASHC5
RBM8A
MED12
SLC12A6
HUWE1
PQBP1
IRX5
DEAF1
RAI1
PNPLA6
RAB3GAP1
RAB18
KDM1A
IQSEC2
POGZ
SATB2
SPECC1L
MED13L
ADNP
TNFRSF13B
RAB3GAP2
NIPBL
SETBP1
CNTNAP2
AUTS2
ZBTB20
B3GAT3
INTU
BBS9 23160099
PGAP2
PCLO
ICOS
DSE
SLC25A24
POLR1D
ZDHHC9
PHF21A
WAC
TDP2
NBAS
PIGT
OTUD6B
PTRH2
SUFU
RAB23
NANS
RNF216
TMCO1
SETD5
CHD7
PIGV
IFT122 20493458
NGLY1
MBD5
HDAC8
CYP26B1
CCDC47
THAP11
TBC1D24
ARID1B
WDR35 20817137
ZSWIM6
ALX4
FKBP10
PRDM16
UPF3B
SRD5A3
TBL1XR1
ALG9
EHMT1
ALG13
CENPT
ADAMTS10
LAS1L
TRAPPC9
PIGO
PIGY
UBE3B
ADAMTSL1
PGAP3
NACC1
CHST14
TNFRSF13C
TTC8
AMER1
B3GLCT
ESCO2
FREM1
SPATA5
TAPT1
TUBB
STAC3
NALCN
PIGW
UNC80
CTU2