midface retrusion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. (Human Phenotype Ontology, HP_0011800)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011800
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Genes

62 genes associated with the midface retrusion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
BANF1 barrier to autointegration factor 1
BMP4 bone morphogenetic protein 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CANT1 calcium activated nucleotidase 1
CCDC8 coiled-coil domain containing 8
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ERF Ets2 repressor factor
FAM20C family with sequence similarity 20, member C
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GLI2 GLI family zinc finger 2
HDAC4 histone deacetylase 4
HOXB1 homeobox B1
ICK intestinal cell (MAK-like) kinase
KIF22 kinesin family member 22
LIFR leukemia inhibitory factor receptor alpha
LINS lines homolog (Drosophila)
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LRPPRC leucine-rich pentatricopeptide repeat containing
MAN2B1 mannosidase, alpha, class 2B, member 1
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
PDE4D phosphodiesterase 4D, cAMP-specific
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POR P450 (cytochrome) oxidoreductase
POU1F1 POU class 1 homeobox 1
PYCR1 pyrroline-5-carboxylate reductase 1
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SEC23A Sec23 homolog A (S. cerevisiae)
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SHH sonic hedgehog
SIX3 SIX homeobox 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMAD4 SMAD family member 4
SOST sclerostin
SP7 Sp7 transcription factor
TMEM165 transmembrane protein 165
UBE2A ubiquitin-conjugating enzyme E2A
USB1 U6 snRNA biogenesis 1
WNT5A wingless-type MMTV integration site family, member 5A
ZBTB20 zinc finger and BTB domain containing 20