bowed radius Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A bending or abnormal curvature of the radius. (Human Phenotype Ontology, HP_0002986)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004374
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Genes

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

Symbol Name
AMER1 APC membrane recruitment protein 1
CHKB choline kinase beta
CTGF connective tissue growth factor
EVX2 even-skipped homeobox 2
FGF18 fibroblast growth factor 18
FGFR3 fibroblast growth factor receptor 3
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
HOXD13 homeobox D13
IL6ST interleukin 6 signal transducer
PHOSPHO1 phosphatase, orphan 1
PRRX1 paired related homeobox 1
SC5D sterol-C5-desaturase
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOX9 SRY (sex determining region Y)-box 9
ZEB1 zinc finger E-box binding homeobox 1