short radius Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the radius. (Human Phenotype Ontology, HP_0002984)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004355
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Genes

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

Symbol Name
CHKB choline kinase beta
COL2A1 collagen, type II, alpha 1
EGR2 early growth response 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EVX2 even-skipped homeobox 2
FBN1 fibrillin 1
FGF18 fibroblast growth factor 18
FGF9 fibroblast growth factor 9
FOXC1 forkhead box C1
GDF5 growth differentiation factor 5
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
HOXA11 homeobox A11
HOXD13 homeobox D13
IFT172 intraflagellar transport 172
IMPAD1 inositol monophosphatase domain containing 1
KIAA1715 KIAA1715
NABP2 nucleic acid binding protein 2
NPR2 natriuretic peptide receptor 2
OFD1 oral-facial-digital syndrome 1
PAPPA2 pappalysin 2
PDS5B PDS5 cohesin associated factor B
PHEX phosphate regulating endopeptidase homolog, X-linked
PKDCC protein kinase domain containing, cytoplasmic
POSTN periostin, osteoblast specific factor
PRRX1 paired related homeobox 1
PTHLH parathyroid hormone-like hormone
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
SFRP2 secreted frizzled-related protein 2
SHH sonic hedgehog
TBX15 T-box 15
TGFB2 transforming growth factor, beta 2
VKORC1 vitamin K epoxide reductase complex, subunit 1
WNT5A wingless-type MMTV integration site family, member 5A