Disease Term Disease ID Gene Symbol References
Micromelia C0025995 ACP5
ACTB
ACAN
ALPL
APC
BMPR1B
SERPINH1
CDKN1C
COL2A1
COL9A1
COL9A2
COL9A3
COL11A1
COL11A2
COMP
DHCR7
DHCR24
SLC26A2
DVL1
DVL3
EVC
EXT1
EXT2
FGFR3
FGFR2
FLNB
FN1
FZD2
GLI1
GLI3
HSPG2
IDH1
IDH2
IHH
INPPL1
KIF22
LBR
LIFR
LRP4
MATN3
KMT2A
DDR2
PCNT
PDE4D
POLE
PRKAR1A
PTH1R
RAD21
RMRP
SHOX
WNT5A
WNT7A
GDF5
SMC1A
SMC3
TRIP11
ADAMTS2
IFT140
KIAA0586
CUL7
GPC6
CD96
CRTAP
PUF60
CILK1
SLC35D1
EXOC6B
OBSL1
NIPBL
TCTN3
IFT172
PHGDH
IFT81
PSAT1
DONSON
PAM16
NBAS
DYNC2LI1
DYM
DYNC2I1
SETD5
HHAT
HDAC8
ERGIC1
WDR35
IFT80
WDR19
TRPV4
DDRGK1
DYNC2H1
TTC21B
CCDC8
DYNC2I2
IFT43
ANTXR2
B3GALT6
EVC2
B3GLCT
CEP120
HYLS1
KIF7
RNU4ATAC