short humerus Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the humerus. (Human Phenotype Ontology, HP_0005792)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004351
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Genes

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

Symbol Name
ACAN aggrecan
BMP5 bone morphogenetic protein 5
COL2A1 collagen, type II, alpha 1
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
DYM dymeclin
EVC Ellis van Creveld protein
FGF9 fibroblast growth factor 9
FGFR3 fibroblast growth factor receptor 3
FOXC1 forkhead box C1
GDF5 growth differentiation factor 5
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
HOXD9 homeobox D9
IFT172 intraflagellar transport 172
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
LEP leptin
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
NABP2 nucleic acid binding protein 2
NPR2 natriuretic peptide receptor 2
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
PRKG2 protein kinase, cGMP-dependent, type II
PTHLH parathyroid hormone-like hormone
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
TBX15 T-box 15
VKORC1 vitamin K epoxide reductase complex, subunit 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I