Disease Term Disease ID Gene Symbol References
Acrocephaly C0030044 ARVCF
BMP2 23160099
COMT
EFNB1 15166289
MEGF8
ERF 23354439
EZH2 26424790
FGFR1
FGFR3
FGFR2 9605588, 8957519, 16465081
GP1BB
GPX4
SMAD6
NELL1 14672347
P4HB
PEX5
RREB1
TBX1
TCF12 23354436
HIRA
TWIST1 12221714
UFD1
ZIC1 26340333
SEC24C
SEC24D
SLC12A6
BBS9 23160099
SLC25A24
RAB23
FERMT1
IFT122 20493458
WDR35 20817137
ALX4
FREM1
JMJD1C