short thorax Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced inferior to superior extent of the thorax. (Human Phenotype Ontology, HP_0010306)
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43 genes associated with the short thorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ASXL1 additional sex combs like transcriptional regulator 1
BMPER BMP binding endothelial regulator
CCDC8 coiled-coil domain containing 8
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL2A1 collagen, type II, alpha 1
CUL7 cullin 7
DLL3 delta-like 3 (Drosophila)
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
HES7 hes family bHLH transcription factor 7
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IHH indian hedgehog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
NEU1 sialidase 1 (lysosomal sialidase)
OBSL1 obscurin-like 1
ORC6 origin recognition complex, subunit 6
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PTH1R parathyroid hormone 1 receptor
RAPSN receptor-associated protein of the synapse
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SBDS Shwachman-Bodian-Diamond syndrome
SLC26A2 solute carrier family 26 (anion exchanger), member 2
TBX6 T-box 6
TRAPPC2 trafficking protein particle complex 2
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60