non-midline cleft lip Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. (Human Phenotype Ontology, HP_0100335)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100335
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Genes

37 genes associated with the non-midline cleft lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
COL4A1 collagen, type IV, alpha 1
DHODH dihydroorotate dehydrogenase (quinone)
DMPK dystrophia myotonica-protein kinase
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FKTN fukutin
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GRHL3 grainyhead-like 3 (Drosophila)
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IRF6 interferon regulatory factor 6
ISPD isoprenoid synthase domain containing
ITGA8 integrin, alpha 8
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
NBN nibrin
PHF8 PHD finger protein 8
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTCH1 patched 1
RET ret proto-oncogene
SF3B4 splicing factor 3b, subunit 4, 49kDa
SMAD4 SMAD family member 4
SUMO1 small ubiquitin-like modifier 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM5 transmembrane protein 5
TP63 tumor protein p63