elfin facies Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. (Human Phenotype Ontology, HP_0004428)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004428
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Genes

10 genes associated with the elfin facies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CLIP2 CAP-GLY domain containing linker protein 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
ELN elastin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
INSR insulin receptor
LIMK1 LIM domain kinase 1
RFC2 replication factor C (activator 1) 2, 40kDa
TBL2 transducin (beta)-like 2