abnormal digit development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the formation of the digits (Mammalian Phenotype Ontology, MP_0006280)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006280
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Genes

19 gene mutations causing the abnormal digit development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BHLHA9 basic helix-loop-helix family, member a9
BMPR1B bone morphogenetic protein receptor, type IB
CHD7 chromodomain helicase DNA binding protein 7
FBN2 fibrillin 2
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
GDF5 growth differentiation factor 5
GLI3 GLI family zinc finger 3
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
IRF6 interferon regulatory factor 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG2 jagged 2
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
RDH10 retinol dehydrogenase 10 (all-trans)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SFRP2 secreted frizzled-related protein 2
SIRT1 sirtuin 1
SMOC1 SPARC related modular calcium binding 1
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