facial cleft Gene Set

Dataset MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008797
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21 gene mutations causing the facial cleft phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALX3 ALX homeobox 3
APAF1 apoptotic peptidase activating factor 1
CECR2 cat eye syndrome chromosome region, candidate 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
FBXO11 F-box protein 11
GRHL2 grainyhead-like 2 (Drosophila)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
PAK1IP1 PAK1 interacting protein 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
RDH10 retinol dehydrogenase 10 (all-trans)
SHROOM3 shroom family member 3
SKI SKI proto-oncogene
SUMO1 small ubiquitin-like modifier 1
TACC3 transforming, acidic coiled-coil containing protein 3
TBC1D32 TBC1 domain family, member 32
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TULP3 tubby like protein 3
WDPCP WD repeat containing planar cell polarity effector
ZEB1 zinc finger E-box binding homeobox 1