Dwarfism

Disease Term Disease ID Gene Symbol References
Dwarfism C0013336 AARS1
ABL1
ACP5
ACTA1
ACTB
ADAR
AGA
ACAN
AGL
AHSG
AKT1
ALDH3A2
ALDOA
ALOX12B
ALPL
AMPD2
ANK1
FAS
AQP2
STS
ARSL
ARVCF
ASAH1
ASL
ATM
RERE
ATP5F1D
ATP6V1A
ATP6V1B2
ATP6V1E1
ATP7A
ATR
ATRX
AVPR2
BBS1
BBS2
BBS4
BCR
BDNF
BLM
BMP2
BMPR1A
BMPR1B
BRCA1
BRAF
BRCA2 24389050
BTK
BUB1
BUB1B
C1R
C1S
CFAP410
CA2
CA8
CACNA1A
CACNA1B
CASP8
CASR
CAV1
RUNX2
SERPINH1
CDC6
CDH3
CDK6
CDKN1C
CDSN
CENPE
CHD4
CHRNA7
CHRNG
CLCN5
CLCN7
CLTC
COL1A1
COL1A2
COL2A1
COL3A1
COL5A1
COL5A2
COL6A2
COL9A1
COL9A2
COL9A3
COL11A1
COL11A2
COMP
COMT
COX7B
CREBBP
CRKL
HAPLN1 9988279
NKX2-5
CTBP1
CTNS
CTNND2
CTSK
CYB5A
CYP11B1
CYP17A1
CYP19A1
CYP27B1
DDB2
DDOST
DHCR7
DHCR24
DIAPH1
DKC1
DMP1
DNM1
DNA2
DYNC1I2
DNMT3A 30478443
DNMT3B
DPH1
DPP6
SLC26A2
DVL1
DVL3
ECE1
EDN3
EDNRB
PHC1
EEF1A2
EFNB1
EHHADH
ELN
EP300
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERF
EXT1
EXT2
EYA1
FANCA
FANCC
FANCD2
FANCE
BPTF
FANCB
FANCF
FANCG
FBN1
GPC4
FGD1
FGF8
FGF12
FGFR1
FGFR3
FGFR2
FOXE1
FLI1
FLII
FLNA
FLNB
FMR1
AFF2
FN1
FSHR
NR5A1
FUCA1
FUT8
KDSR
FZD2
G6PC1
SLC37A4
GABRB2
GABRD
GABRG2
GAS1
GATA1
GATA4
GBA
GDNF
GH1
GHR
GHSR
GJA1
GJB2
GJB3
GK
GLA
GLB1
GLE1
GLI2
GLI3
GM2A
GNAS
GP1BB
GPD1
GRIA3
GRIA4
GRIN2A
GRIN2D
GRM1
GTF2E2
GTF2I
BRF1
GUSB
GYS2
HBA1
HBA2
HCCS
HCFC1
HELLS
HLA-DQA1
HLA-DQB1
HMGB3
HNF4A
HNRNPA1
HNRNPA2B1
HNRNPH2
HNRNPU
HOXD13
HPRT1
HRAS
HSD11B2
HSD17B4
HSPA9
HSPG2
HYAL1
IDH1
IDH2
IDS
IDUA
IGBP1
IGF1
IGF1R
IGF2
IGFALS 14762184
IHH
INPPL1
INSR
IPW
ITGA7
ITGB6
KCNA2
KCNA4
KCNB1
KCNC3
KCNJ1
KIF11
KIF22
KRAS
L1CAM
LEPR
LETM1
LFNG
LHX1
LIFR
LIG4 24123394, 11779494
LIMK1
LMNA
LMX1B
LRP5
LTBP2
LTBP3
SMAD4
MAF
MECP2
MEIS2
MGAT2
MGP
KMT2A
MMP2
MMP9
MMP13
MPL
MPV17
MRE11
ATP6
COX1
COX2
COX3
ND1
ND4
ND5
ND6
RNR1
TRNF
TRNH
TRNK
TRNL1
TRNP
TRNQ
TRNS1
TRNS2
TRNW
TRIM37
MVK
MYH3
MYH7
MYH8
MYL2
NBN
NDN
NEK1
NEU1
NF1
NFE2L2
NODAL
NOTCH2
NOTCH3
NPHP1
NRAS
NRTN
NTRK2
ROR2
OCRL
OGDH
TNFRSF11B
SIX6
ORC1 21358633
ORC4
OTX2
P4HB
PARN
PAX1
PAX6
PCCA
PCCB
PCNA
PCNT
PCYT1A
PDE3A
PDE4D
PDE6D
ENPP1
SLC26A4
PEX1
PEX6
PEX7
PEX10
PEX12
PEX13
PEX14
ATP8B1
PGM1
PGM3
PHEX
PHKA2
PHKB
PHKG2
PIK3C2A
PIK3CA
PIK3R1
PLEC
PLOD2
PLP1
POLA1
POLE
POR
POU1F1
CTSA
PPP1CB
PPP3CA
PRKACA
PRKAR1A
MAPK1
MAP2K1
MAP2K2
DNAJC3
PROP1
PRPS1
PTCH1
PTEN
PTHLH
PTH1R
PTPN11
PEX19
PEX2
PEX5
PYCR1
ALDH18A1
PYGL
RAD21
RAD51
RAD51C
RAF1
RAP1A
RAP1B
RASA2
RB1
RBBP8
DPF2
RET
RFC2
RIT1
RMRP
ROBO1
RPL5
RPL10
RPL11
RPL15
RPL18
RPL26
RPL27
RPL35A
RPS6KA3
RPS7
RPS10
RPS15A
RPS17
RPS19
RPS23
RPS24
RPS26
RPS27
RPS28
RPS29
RRAS
RREB1
SALL1
MSMO1
SCN3A
SCN4A
SCN8A
SDHA
SDHB
SDHC
SDHD
SHH
SHOX
STIL
SIM1
SIX3
SKI
SKIV2L
SLC1A2
SLC2A1
SLC2A2 22060631
SLC4A1
SLC5A5
SLC6A8
SLC12A1
SLC34A1
SMARCA2
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SMPD1
SMS
SNRPB
SNRPN
SON
SOS1
SOS2
SOX2
SOX3
SOX4
SOX9
SOX11
SPARC
SRP54
SRY
STAT1
STAT3
STAT5B
STIM1
STXBP1
SULT2B1
TAF6
TAF13
MAP3K7
TBX1
TBCE
TBX2
TBX6
TBX15
TBX3
HNF1B
TDGF1
TERC
TERT
TFAP2A
TG 24582622
TGFB3
TGIF1
TGM1
NKX2-1
TNNI2
TNNT3
TOP3A
TP53
TPM2
TPM3
TPO
TRH
TRPS1
TSHR
TTN
HIRA
TWIST1
UBE3A
UFD1
SLC35A2
UROS
KDM6A
VCP
VDR
VLDLR
CLIP2
WHCR
NSD2
WNT1
WNT5A
WNT7A
WRN
WT1
XPA
XPC
XRCC2
XRCC4 25728776, 24389050
YWHAG
ZIC2
MKRN3
ZBTB16
ZNF148
RNF113A
ALMS1
PAX8
AIMP2
KAT6A
LHX3
SHOC2
FGF23
KMT2D
AAAS
HMGA2
AP3B2
MKKS
GDF5
DGCR6
LZTR1
ESS2
USP9X
KDM5C
SMC1A
NAA10
LAGE3
ARID1A
TRRAP
CDC45
CUL4B
OFD1
PPM1D
PEX3
KCNAB2
IKBKG
CDK10
CASK
PDE8B
TP63
DCHS1
ABCB11
STX16
MBTPS1
TNFRSF11A
PEX11B
SUCLA2
BANF1
HESX1
SYNGAP1
CCN6
SYNJ1
AP1S2
HERC2
FOXH1
BAZ1B
SEMA5A
SLC7A7
PAPSS2
SMC3
CTDP1
AP4M1
BUB3
HACD1
BMP15
LARGE1
NOG
COPB2
TRIP13
TRIP11
SNAP29
EFTUD2
LONP1
RECQL4
PEX16
CRIPT
ECEL1
EIF2AK3
CHST3
KIF23
TBX4
ADAMTS2
GTF2IRD1
PREPL
SEC24C
TTC37
IQCB1
CEP135
PUM1
CEP57
ADAMTSL2
SEMA3E
IFT140
HDAC4
EIF4A3 9449664
PTDSS1
CUL7
GINS1
ZBTB24
KIAA0753
SEC24D
TECPR2
FIG4
WASHC5
ARNT2
NCAPD2
IQSEC1 31607425
KIF14
AMMECR1 27811305
MED12
DGCR2
FARSB
ABCB6
HUWE1
PQBP1
MKRN3-AS1
RAD50
AASS
CD96
SF3B4
ZMPSTE24
CWC27
TRAIP 26595769
TUBB4A
EMG1
MAD2L2
COG5
ZBTB18
SEC23B
SEC23A
SEMA3C
DEAF1
HYOU1
RNASEH2A
SLC19A2
COLEC10
MTHFS
KLF1
CTCF
EBP
DLL3
AP4B1
YME1L1
PLK4 25344692
STAG2
SIX2
RAI1
KIF1C
WDR4 26416026
SEPTIN9
GJB6
SDCCAG8
CPLX1
SRCAP
TXNL4A
PNPLA6
POP1
MAPRE2
SPINK5
TLK2
IFT27
CIT
POLR3A
AP4S1
RPL35
TREX1
B4GALT7
MRAS
PUF60
CHSY1
CNKSR2
CEP164
TRAK1
RAB3GAP1
RAB18
TRIM32
CEP152
KDM1A
IQSEC2
SPART
TAB2
POGZ
ANKLE2
VPS13A
EXOC6B
KATNIP
DDHD2
NCAPD3
DMXL2
SATB2
WASHC4
SZT2
OBSL1
SPECC1L
ADNP
EXOSC2
MLYCD
AP4E1
GPR161
TGDS
HAAO
SPIDR
KAT6B
ATP6V0A2
LEMD3
ORC6
SHPK
NPAP1
DSTYK
RAB3GAP2
NIPBL
COG4
POLR1A
POC1A 26791357
RTTN
SAMHD1
SIN3A 27399968
SH2B1
PARS2
NECAP1
AUTS2
WIPI2
TCTN3
KIFBP
ZBTB20
TRAF3IP1
ABCA12
IFT172
PTPN22
FBXL3 30481285
PHGDH
B3GAT3
TINF2
TBL2
CYFIP2
NPHP3
AFF4
INVS
INTU
TUBGCP4
BBS9
PCLO
DLL1
CCDC22
LAMTOR2
OSTM1
SETD2
UBE2T
ANKRD11
PSMC3IP
PYCR2
GMPPA
SEC61A1
SLC25A24
DONSON 28191891
DUOX2
CDON
PDE11A
TBX22
SOST
TPRKB
PAM16
GMNN 26637980
WDPCP
MLXIPL
IFT52
ABHD5
RDH11
SBDS
RLIM
NIN
TMEM216
DACT1
MBTPS2
ACTL6B
UFC1
LARP7 26374271
NBAS
DYNC2LI1
OTUD6B
PTRH2
SUFU
RAB23
WWOX
RTEL1
ATP8A2
INPP5K
MAP3K20
KDM3B 30929739
ADA2
FGFRL1
WNT4 17505543
RIN2
RNF216
DGCR8
PRMT7
TMCO1
PUS7 30526862
NDUFB11
MAGEL2
LZTFL1
SAMD9
NDE1
BCOR
NSUN2
NCAPG2
MKS1
BPNT2
PPP2R3C
IFT57
DYNC2I1
FANCL
RBM28
WRAP53
MSTO1
RFWD3
SETD5
BBS7
FANCI
TRAPPC14
VPS53
SLC29A3
UFSP2
ACER3
SLC35C1
NOP10
RNPC3
SLC39A4
CHD7
OSGEP
NHP2
PEX26
VAC14
IARS2
POLR3B
WDR11
HHAT
NUP133
CDK5RAP2
TBC1D23
MBD5
MCTP2
CENPJ
TMEM165
HDAC8
ZC4H2
MRPS22
FAM20C
KIF15
KNL1
PNPLA2
NUP107
SALL4
THOC2
SELENON
SHROOM4
ARID1B
HACE1
WDR35
IFT80
FANCM
EPG5
WDR19
NLRC4
TRPV4
ALOXE3
FKBP10
TRAPPC11
PIEZO2
FAM111A
PRDM16
SMOC1
SLC39A8
XYLT1
IFIH1
STRA6
NSD1
LMBR1
NXN
SIL1
GZF1
ARV1
PORCN
ACD
CPLANE1
DDRGK1
SECISBP2
GNPTAB
RNASEH2B
EFL1
FAT4
ROGDI
MCPH1
USB1
DYNC2H1
TBL1XR1
PALB2
BBS10
TTC21B
CLMP
UBA5
DHDDS
GRHL2
PGAP1
CTC1
CEP290
TTI2
CEP63
CDT1
ADAMTS10
LAS1L
CDCA7
SPRTN
CCDC8
BRIP1
SLC10A7 29878199
ARL6
ATRIP
RNASEH2C
ANTXR1
PHF6
SLX4
GNPTG
KISS1R
HES7
LOXL3
ORAI1
MFSD2A
PPP1R15B
WDR73
DISP1
COL27A1
TUBGCP6
LHX4
DYNC2I2
UBE3B
RSPRY1
TSR2
TMEM67
SLC39A13
ATPAF2
RFT1
COG7
CCNQ
GORAB
BBIP1
MARS2
TRMT10A
IFT43
TP53RK
ADAT3
NLRP3
NUS1
ANTXR2
CYP2R1
SDR9C7
SP7
TRAPPC6B
TTC8
CANT1
WDR81
CYP4F22
B3GALT6
GJB4
TBC1D20
PROKR2
BBS5
UROC1
DNAJC21
RIPPLY2
AMER1
SLC34A3
A2ML1
GSC
PWAR1
MESP2
CKAP2L
CEP120
ESCO2
CFAP418
VPS13B
SASS6
RNF168
BBS12
ARX
ADAMTS17
ASXL1
ARID2
UBR1
FLCN
TUBB
CERS3
JMJD1C
RSPH9
SEMA3D
STAC3
MCM9
DYNLT2B
NALCN
ASPM
NPHP4
SLC13A5
WDR62
SUMF1
PNPLA1
NSMCE2
FAM149B1
SNORD115-1
NAT8L
SLC6A19
RSPH4A 26073779
TUBB2B
NIPAL4
HCN1
KIF7
IFITM5
IYD
MYMK
CHCHD10
SOHLH1
GTF2H5
DUOXA2
MIR17HG
LIPN
SDHAF1
PWRN1
SNORD116-1
KLLN
RNU4ATAC
Dwarfism tall vertebrae C1851996 CCDC8 21737058