Disease Term Disease ID Gene Symbol References
Familial scaphocephaly syndrome, McGillivray type 168624 FGFR2
Scaphycephaly C0265534 ARCN1
BMP2 23160099
CNTN1
DPH1
EFNB1 15166289
ERF 23354439
EZH2 26424790
FBN1
FBN2
FGFR1
FGFR2 9605588, 16465081, 8957519
GLI3
HSD17B4
IDS
KRAS
SMAD6 28659821
NELL1 14672347
NFIX
PEX19
TCF12 23354436
TWIST1 12221714, 17343269
ZIC1
OFD1
IFT140
TRAIP
KPTN
BBS9 23160099
TBC1D7
IFT122 20493458
KIF15
WDR35 20817137
ALX4 22829454
FREM1