Osteochondrodysplasia

Disease Term Disease ID Gene Symbol References
Osteochondrodysplasias C0029422 ACTB
ACTG1
AKT1
ALDH3A2
BCL2 17954590
BMPR1B
RUNX2
CDH3
COL2A1 8486375
COL3A1
COL9A1 11565064, 16909383
COL11A1 19638309
CTSK
DCC
DMP1
SLC26A2 21922596, 11241838, 15294877, 12525546, 8528239, 8571951, 9637425, 10482955, 21155763, 20592910, 20219950
DUSP6
ERF
FGF8
FGFR1
FGFR3
FLNA 12612583
FLT1 17954590
GJA1
GLB1 817853
GLI3
GNAS
HBB
HSPG2 10545953, 11279527
IDUA
IHH
ANOS1
KCNJ8
KDR 17954590
KIF22
KRAS
LIFR
LMX1B
NEU1
NOTCH2
P4HB
ENPP1
PEX1
PEX6
PEX7
PEX10
PEX12
PEX13
PEX14
PHYH
CTSA
PTEN
PTH1R
PEX19
PEX2
PEX5
TRAPPC2
SOX10
TACR3
TCOF1
THRA 27144938
TYROBP
VEGFA 24235232
GDF5
PEX3
DCHS1
PEX11B
HESX1
FGF17
TRIP11
HS6ST1
RECQL4
PEX16
CHST3 30200136
POLR1C
ADAMTSL2 18677313
IFT140
SEC24D
ABCC9
SF3B4
SEMA3A
SEC23A
DLL3 11146471
B4GALT7
LEMD3
PISD 30858161
FLRT3
NSMF
IFT172
SOST
POLR1D
DYNC2LI1
TREM2
IL17RD
DYM
DYNC2I1
CHD7
PEX26
WDR11
ANKH
IFT80
WDR19
NLRC4
TRPV4 18587396
PROK2
FAT4
DYNC2H1
ALG9
TTC21B
SPRY4
SLC10A7 29878199
KISS1R
DYNC2I2
TMEM67
SLC39A13
NLRP3
PROKR2
CEP120
CCDC141
FEZF1
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE C4225162 TAPT1 26365339