flat face Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Absence of concavity or convexity of the face when viewed in profile. (Human Phenotype Ontology, HP_0012368)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012175
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Genes

3 gene mutations causing the flat face phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
HAPLN1 hyaluronan and proteoglycan link protein 1
HSPG2 heparan sulfate proteoglycan 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor