Brachydactyly

Disease Term Disease ID Gene Symbol References
Brachydactyly C0221357 ACAN
JAG1
AHSG
AKT1
ALX3
RERE
ATP6V1B2
ATP7A
ATRX
BBS1
BBS4
BGN
BMP4
BMPR1B
BRAF
CAMK2G
RUNX2
CHN1
COL2A1
COL10A1
COL11A1
COL11A2
COMP
CSNK2A1
NKX2-5
CTSK
DHCR7
SLC26A2
DVL1
DVL3
EFNB1
MEGF8
ERF
EVC
EXT1
EXTL3
FBN1
GPC4
FGD1
FGF9
FGFR1
FGFR3
FGFR2
FLII
FLNA
FLNB
KDSR
FZD2
GABRD
GATA4
GATA6
GDF1
GHR
GJA1
GJA5
GJB2
GJB3
GLI3
GNAS 12719376
GPX4
HOXA13
HOXD13
RBPJ
IHH
INPPL1
INSR
ITGB6
KCNJ2
KRAS
LBR
LIG4
LMNA
LTBP2
LTBP3
SMAD4 22158539
MAF
MEFV
NEK1
NOTCH1
NOTCH2
NPR2
NRAS
ROR2
PAH
PAX3
PCNT
PCYT1A
PDE3A
PDE4D
PDE6D
PDGFRB
PGM3
PIK3CA
PIK3R1
PITX1
PPP1CB
PPP2R1A
PPP3CA
PRKAR1A
MAP2K1
PTCH1
PTEN
PTHLH
PTH1R
PTPN11
RAF1
RASA2
RB1
DPF2
REV3L
RIT1
RMRP
RPL10
RPS6KA3
RRAS
SDHB
SDHC
SDHD
SHOX
SKI
SLC2A1
SMARCA2
SMARCD2
SOS1
SOS2
MAP3K7
TBX1
TBX15
TCF12
TGFBR2
TNNT3
TRIO
TRPS1
TULP1
TWIST1
WNT5A
ZIC1
KAT6A
SHOC2
ALX1
MKKS
GDF5
LZTR1
KDM5C
SMC1A
ARID1A
OFD1
PPM1D
KCNAB2
PTCH2
MBTPS1
PAPSS2
SMC3
NOG
TRIP11
LONP1
CRIPT
ECEL1
EIF2AK3
CHST3
MACROH2A1
SEMA3E
IFT140
HDAC4 20691407
KIAA0586
PTDSS1
KIAA0753
WASHC5
MAFB
MED12
HUWE1
CWC27
CITED2
SEC23B
DEAF1
STAMBP
RAI1
SRCAP
PNPLA6
POP1
MRAS
CHSY1
CILK1
IQSEC2
SPART
POGZ
PLXND1
SLC35D1
SPECC1L
SIK3
ADNP
EXOSC2
ZFPM2
KAT6B
PIGN
NIPBL
POC1A
SIN3A
TCTN3
IFT172
AFF4
CCDC22
DCPS
IFT81
ANKRD11
DONSON
SCAPER 30723319
CHST11
KCNK4
TBX22
MRPS16
IFT52
ZDHHC9
RLIM
TMEM216
POMP
NBAS
DYNC2LI1
SUFU
RAB23
INPP5K
WNT4
RIN2
PRMT7
MAGEL2
DLL4
LZTFL1
DYM
NSUN2
BPNT2
IFT57
DYNC2I1
YY1AP1
SLC35C1
CHD7
IARS2
IFT122
HDAC8
KIF15
SLURP1
SNX14
TBC1D24
ARHGAP31
WDR35
IFT80
DOCK6
WDR19
NLRC4
TRPV4
FAM111A
PRDM16
NXN
SIL1
PORCN
UPF3B
CPLANE1
FTO
CCDC28B
DYNC2H1
TTC21B
EHMT1
CSPP1
ADAMTS10
ARL6
COL25A1
DYNC2I2
TMEM67
BBIP1
PIGS
IFT43
C12orf57
NLRP3
ANTXR2
CANT1
GJB4
BBS5
EVC2
NKX2-6
GATA5
A2ML1
B3GLCT
CEP120
ESCO2
ARID2
ZDHHC24
TMEM256
DYNLT2B 26044572
EOGT
SH3PXD2B
FAM149B1
KIF7
MYMK
MIR17HG
BHLHA9
KLLN
RNU4ATAC
TMEM256-PLSCR3
BRACHYDACTYLY, TYPE A2 C1832702 BMP2 19327734, 29198724, 24710560, 29129813
BMPR1B 16957682, 14523231, 18203755
DMP1
GDF5 16127465, 21976273, 2703235, 16014698, 18203755
GDF5-AS1
Brachydactyly syndrome type C C1300268 BMPR1B 16957682
GDF5 12357473
Brachydactyly type C C1862103, 93384 BMPR1B 16957682
DMP1
GDF5 25820810, 2703235, 22828468, 14735582, 25092592, 12357473
GDF5-AS1
BRACHYDACTYLY, TYPE A1 (disorder) C1862151 BMPR1B 25758993
IHH 21167467, 11455389, 12384778, 25959774, 21537345, 12632327
GDF5 20683927, 2703235
BRACHYDACTYLY, TYPE A1, D C4225183 BMPR1B 25758993
BRACHYDACTYLY, TYPE A1, C C3554446 DMP1
GDF5 24098149, 20683927
GDF5-AS1
BRACHYDACTYLY, TYPE D C0220664 HOXD13 24239177, 12649808, 17236141
Brachydactyly syndrome type E C0265312 HOXD13 12649808
PTHLH 20170896
Brachydactyly syndrome type B C1300267 ROR2 10986040, 10700182
BRACHYDACTYLY, TYPE B1 C1862112 ROR2 19461659, 19533773
NOG
BRACHYDACTYLY, TYPE E2 C3150644 PTHLH 20170896
BRACHYDACTYLY, TYPE B2 (disorder) C1969652 NOG 17668388
Brachydactyly type B2 140908 NOG
Brachydactyly type E 93387 HOXD13
PTHLH
Brachydactyly type A1 93388 BMPR1B
GDF5
IHH
NON RARE IN EUROPE: Brachydactyly type D 93385 HOXD13
Brachydactyly type A2 93396 BMP2
GDF5
BMPR1B
Brachydactyly type B1 572385 ROR2