Disease Term Disease ID Gene Symbol References
Rhizomelia C1866730 ACP5
ACAN
ARCN1
CFAP410
COL1A1
COL2A1
COL11A1
COL11A2
DHCR7
DHCR24
EXTL3
FGFR1
FGFR3
FLNB
MTOR
FZD2
GPX4
INPPL1
LBR 29068549
KMT2A
MMP13
TONSL
PCYT1A
PEX7
PTH1R
RMRP
TBX15
GDF5
SMC1A
GNPAT
AGPS
KYNU
TRIP11
COG1
CHST3
HDAC6
GPC6
CRTAP
EBP
CILK1 19185282
SIK3
IFT52
MBTPS2
IFT122
WDR35
IFT80
WDR19
ALG12
CREB3L1
IFT43
MYSM1
B3GLCT
GSC
CEP120