short tibia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment (reduced size) of the tibia. (Human Phenotype Ontology, HP_0005736)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002764
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Genes

87 gene mutations causing the short tibia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ADGRF5 adhesion G protein-coupled receptor F5
ALX4 ALX homeobox 4
ATN1 atrophin 1
BAG3 BCL2-associated athanogene 3
BBS5 Bardet-Biedl syndrome 5
CBFB core-binding factor, beta subunit
CD44 CD44 molecule (Indian blood group)
CHPF chondroitin polymerizing factor
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
DNASE1L2 deoxyribonuclease I-like 2
DYM dymeclin
EBF2 early B-cell factor 2
EGR2 early growth response 2
ELMOD1 ELMO/CED-12 domain containing 1
ESR1 estrogen receptor 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM134C family with sequence similarity 134, member C
FAM151B family with sequence similarity 151, member B
FAM63A family with sequence similarity 63, member A
FBN1 fibrillin 1
FGF18 fibroblast growth factor 18
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FMN1 formin 1
GDF5 growth differentiation factor 5
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GRHL3 grainyhead-like 3 (Drosophila)
HELLS helicase, lymphoid-specific
IFT172 intraflagellar transport 172
IHH indian hedgehog
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KIAA1715 KIAA1715
LRRK1 leucine-rich repeat kinase 1
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MATN3 matrilin 3
MEX3C mex-3 RNA binding family member C
MIB2 mindbomb E3 ubiquitin protein ligase 2
MIR140 microRNA 140
MMP9 matrix metallopeptidase 9
MSX2 msh homeobox 2
MXRA7 matrix-remodelling associated 7
NABP2 nucleic acid binding protein 2
NFXL1 nuclear transcription factor, X-box binding-like 1
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
PAPPA2 pappalysin 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PITX1 paired-like homeodomain 1
PKDCC protein kinase domain containing, cytoplasmic
POSTN periostin, osteoblast specific factor
PRDM4 PR domain containing 4
PRKG2 protein kinase, cGMP-dependent, type II
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PRRX1 paired related homeobox 1
PTHLH parathyroid hormone-like hormone
RCAN2 regulator of calcineurin 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RSPO2 R-spondin 2
SH3GL2 SH3-domain GRB2-like 2
SHH sonic hedgehog
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SPRED2 sprouty-related, EVH1 domain containing 2
TBX4 T-box 4
TCF7 transcription factor 7 (T-cell specific, HMG-box)
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VKORC1 vitamin K epoxide reductase complex, subunit 1
YIPF1 Yip1 domain family, member 1
ZBTB16 zinc finger and BTB domain containing 16