limb undergrowth Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Limb shortening because of underdevelopment of one or more bones of the extremities. (Human Phenotype Ontology, HP_0009826)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009826
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Genes

140 genes associated with the limb undergrowth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ACTB actin, beta
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AGPS alkylglycerone phosphate synthase
ALPL alkaline phosphatase, liver/bone/kidney
ANTXR2 anthrax toxin receptor 2
ASXL1 additional sex combs like transcriptional regulator 1
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
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHUK conserved helix-loop-helix ubiquitous kinase
COG1 component of oligomeric golgi complex 1
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated protein
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EFNB1 ephrin-B1
EIF4A3 eukaryotic translation initiation factor 4A3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
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
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GNPAT glyceronephosphate O-acyltransferase
GPC6 glypican 6
GPX4 glutathione peroxidase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HHAT hedgehog acyltransferase
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
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
JAG1 jagged 1
KIF22 kinesin family member 22
KIF7 kinesin family member 7
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LRP4 low density lipoprotein receptor-related protein 4
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MPST mercaptopyruvate sulfurtransferase
NBAS neuroblastoma amplified sequence
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NPR2 natriuretic peptide receptor 2
OBSL1 obscurin-like 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAT1 phosphoserine aminotransferase 1
PTH1R parathyroid hormone 1 receptor
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RBM10 RNA binding motif protein 10
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
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
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOX short stature homeobox
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SULF1 sulfatase 1
TBX15 T-box 15
TBX3 T-box 3
TBX5 T-box 5
TCTN3 tectonic family member 3
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
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16