aplasia/hypoplasia involving bones of the thorax Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006711
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Genes

81 genes associated with the aplasia/hypoplasia involving bones of the thorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ALPL alkaline phosphatase, liver/bone/kidney
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BMPER BMP binding endothelial regulator
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CUL7 cullin 7
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
HDAC6 histone deacetylase 6
HOXD13 homeobox D13
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IHH indian hedgehog
KIAA0196 KIAA0196
LBR lamin B receptor
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MSX2 msh homeobox 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
NOG noggin
NSDHL NAD(P) dependent steroid dehydrogenase-like
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
PTCH2 patched 2
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBM10 RNA binding motif protein 10
RIPK4 receptor-interacting serine-threonine kinase 4
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RUNX2 runt-related transcription factor 2
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SUFU suppressor of fused homolog (Drosophila)
TBX15 T-box 15
TBX3 T-box 3
TRIP11 thyroid hormone receptor interactor 11
TTC21B tetratricopeptide repeat domain 21B
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZMPSTE24 zinc metallopeptidase STE24