bowed tibia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A bending or abnormal curvature of the tibia. (Human Phenotype Ontology, HP_0002982)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004358
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Genes

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

Symbol Name
CTGF connective tissue growth factor
DNASE1L2 deoxyribonuclease I-like 2
FGF18 fibroblast growth factor 18
FGFR3 fibroblast growth factor receptor 3
GLI3 GLI family zinc finger 3
IL6ST interleukin 6 signal transducer
KIAA1715 KIAA1715
PHOSPHO1 phosphatase, orphan 1
PKDCC protein kinase domain containing, cytoplasmic
PRRX1 paired related homeobox 1
SC5D sterol-C5-desaturase
SHH sonic hedgehog
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMOC1 SPARC related modular calcium binding 1
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