short long bone Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description One or more abnormally short long bone. (Human Phenotype Ontology, HP_0003026)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003026
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Genes

106 genes associated with the short long bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTSL2 ADAMTS-like 2
AGPS alkylglycerone phosphate synthase
AMER1 APC membrane recruitment protein 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B2M beta-2-microglobulin
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DHODH dihydroorotate dehydrogenase (quinone)
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF4A3 eukaryotic translation initiation factor 4A3
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
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC6 glypican 6
GSC goosecoid homeobox
HDAC4 histone deacetylase 4
HOXA13 homeobox A13
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
JAG1 jagged 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LIFR leukemia inhibitory factor receptor alpha
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MATN3 matrilin 3
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NPR2 natriuretic peptide receptor 2
PDE4D phosphodiesterase 4D, cAMP-specific
PHYH phytanoyl-CoA 2-hydroxylase
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RAB33B RAB33B, member RAS oncogene family
RAD51C RAD51 paralog C
RBM10 RNA binding motif protein 10
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL26 ribosomal protein L26
RPS19 ribosomal protein S19
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3PXD2B SH3 and PX domains 2B
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
TBX3 T-box 3
TBX5 T-box 5
TCTN3 tectonic family member 3
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TTC21B tetratricopeptide repeat domain 21B
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16
ZIC3 Zic family member 3