abnormality of the humerus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the humerus (i.e., upper arm bone). (Human Phenotype Ontology, HP_0003063)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003063
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Genes

37 genes associated with the abnormality of the humerus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPS alkylglycerone phosphate synthase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DYM dymeclin
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC6 glypican 6
GSC goosecoid homeobox
IFT122 intraflagellar transport 122
IHH indian hedgehog
LMBR1 limb development membrane protein 1
NOG noggin
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PTDSS1 phosphatidylserine synthase 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SHOX short stature homeobox
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SULF1 sulfatase 1
TBX3 T-box 3
TBX5 T-box 5
TGFB1 transforming growth factor, beta 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT7A wingless-type MMTV integration site family, member 7A
ZIC3 Zic family member 3