Craniosynostosis

Disease Term Disease ID Gene Symbol References
Complex craniosynostosis C3839609 ERF 27738187
Craniosynostosis C0010278 AKT1
ALPL
ATR
BMP2 23160099
RUNX2 23348268
CDC6
CDH11
CENPE
CLCN7
COL10A1
DMP1
DPH1
EFNB1 15166289
MEGF8
ERCC2
ERCC3
ERF 23354439
EZH2 26424790
FBN1
FGFR1 15625620
FGFR3 21739570, 20453470, 7670477, 27139183, 25614871, 21510009, 26740388, 8589686, 19088846, 28249712, 10094188, 22045636, 18976668, 19749790, 10360392, 11055896, 21536014, 20199409, 25606676, 24476948, 25691418, 8880573, 14613973, 11426459, 11038465, 23149434, 23165795, 11754059, 23437153, 7493034, 17875876, 9042914, 9452043, 8845844, 8723101, 11879084, 8589699, 17384684, 16912704, 10861678, 15915095, 25809207, 18583390, 26818779, 17033969
FGFR2 16465081, 8957519, 17803937, 9605588, 22387015
FLNA
FLNB
GLI3
GRIN2B
GTF2E2
H3-3A
HNRNPK
IL11RA
LIG4
LRP5
SMAD6
MN1 15870292
MSX2 23918290
NELL1 14672347
NFIX
NPR2
ORC1
ORC4
PCNT
ENPP1
PHEX
POR
PPP1CB
PPP3CA
MASP1
PTEN
RBBP8
SKI
SMO
SON
STAT3
MAP3K7
TCF12 23354436
TGFBR1
TGFBR2
TRPS1
TWIST1 12221714
SLC35A2
ZIC1
RNF113A
KAT6A 25728777
CDC45
TNFSF11
ADAMTS3
MED12
SLC12A6
HUWE1
GPC6
TRAIP
APC2
TCIRG1
COLEC10
PLK4
TLK2
CEP152
SPECC1L
LEMD3
ORC6
RTTN
BBS9 23160099
SETD2
SNX10
PSAT1
DONSON
GMNN
IFT52
RAB23
MAGEL2
NSUN2
IFT122 20493458
CENPJ
CYP26B1
WDR35 20817137
WDR19
ZNF462 14564155
ALX4
SLC39A8
NSD1
COLEC11
GNPTAB
FAT4
SLC2A10
CDT1
ATRIP
RSPRY1
SCARF2
IFT43
MPLKIP
B3GLCT
CCBE1
ESCO2
FREM1
GTF2H5
CRANIOSYNOSTOSIS 3 C3715051 TCF12 23354436, 24736737, 25271085
CRANIOSYNOSTOSIS 4 C3806917 ERF 23354439, 26097063
CRANIOSYNOSTOSIS 6 C4225269 ZIC1 26340333
CRANIOSYNOSTOSIS 7 C4479496 SMAD6 27606499, 28659821
Craniosynostosis, Type 1 C4551902 BMP2 23160099
EFNB1 15166289
ERF 23354439, 28808027
EZH2 26424790
FGFR1
FGFR2 16465081, 8957519, 9605588
SMAD6
NELL1 14672347
TCF12 23354436
TWIST1 8988167, 11992718, 10649491, 20643727, 16251895, 17343269, 24127277, 19755431, 14513358, 17693524, 9585583, 15923834, 19373776, 9792856, 21520333, 25271085, 20184424, 12221714, 8988166, 19483581
ZIC1
BBS9 23160099
IFT122 20493458
WDR35 20817137
ALX4
FREM1
CRANIOSYNOSTOSIS, TYPE 2 C1858160 MSX2 23949913, 23918290, 14571277, 8106171