abnormal long bone diaphysis morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the main or mid section (shaft) of a long bone (Mammalian Phenotype Ontology, MP_0004214)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004214
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16 gene mutations causing the abnormal long bone diaphysis morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BGLAP bone gamma-carboxyglutamate (gla) protein
BGN biglycan
CBFB core-binding factor, beta subunit
COL11A1 collagen, type XI, alpha 1
CTSK cathepsin K
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GSN gelsolin
IDUA iduronidase, alpha-L-
IL6ST interleukin 6 signal transducer
LRP5 low density lipoprotein receptor-related protein 5
PTPN9 protein tyrosine phosphatase, non-receptor type 9
SFRP2 secreted frizzled-related protein 2
SRC SRC proto-oncogene, non-receptor tyrosine kinase
TRPV5 transient receptor potential cation channel, subfamily V, member 5