synostosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A dysostosis that results_in abnormal fusing of adjacent bones. (Human Disease Ontology, DOID_11971)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000566
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Genes

9 gene mutations causing the synostosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GLI3 GLI family zinc finger 3
IRF6 interferon regulatory factor 6
LMX1A LIM homeobox transcription factor 1, alpha
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
SMOC1 SPARC related modular calcium binding 1