facial cleft Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital malformation with a cleft (gap or opening) in the face. (Human Phenotype Ontology, HP_0002006)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002006
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Genes

17 genes associated with the facial cleft phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX1 ALX homeobox 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF4A3 eukaryotic translation initiation factor 4A3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
IFT80 intraflagellar transport 80
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
RIPK4 receptor-interacting serine-threonine kinase 4
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
TCOF1 Treacher Collins-Franceschetti syndrome 1
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60