thoracic hypoplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005257
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Genes

83 genes associated with the thoracic hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTG2 actin, gamma 2, smooth muscle, enteric
AGRN agrin
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BMPER BMP binding endothelial regulator
CANT1 calcium activated nucleotidase 1
CASR calcium-sensing receptor
CCBE1 collagen and calcium binding EGF domains 1
CLCN7 chloride channel, voltage-sensitive 7
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CRTAP cartilage associated protein
CTSK cathepsin K
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DLG3 discs, large homolog 3 (Drosophila)
DOK7 docking protein 7
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GBA glucosidase, beta, acid
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPX4 glutathione peroxidase 4
HHAT hedgehog acyltransferase
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KLHL41 kelch-like family member 41
LBR lamin B receptor
LMNA lamin A/C
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PTH1R parathyroid hormone 1 receptor
RAPSN receptor-associated protein of the synapse
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPS19 ribosomal protein S19
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SEC23A Sec23 homolog A (S. cerevisiae)
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNX10 sorting nexin 10
SOX9 SRY (sex determining region Y)-box 9
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TMCO1 transmembrane and coiled-coil domains 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
UBA1 ubiquitin-like modifier activating enzyme 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
XYLT1 xylosyltransferase I
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing