flat face Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence of concavity or convexity of the face when viewed in profile. (Human Phenotype Ontology, HP_0012368)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012368
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Genes

27 genes associated with the flat face phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
CCBE1 collagen and calcium binding EGF domains 1
COL2A1 collagen, type II, alpha 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
EBP emopamil binding protein (sterol isomerase)
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FAT4 FAT atypical cadherin 4
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
GPC6 glypican 6
HSPG2 heparan sulfate proteoglycan 2
IMPAD1 inositol monophosphatase domain containing 1
KMT2A lysine (K)-specific methyltransferase 2A
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PEX1 peroxisomal biogenesis factor 1
PEX12 peroxisomal biogenesis factor 12
PEX7 peroxisomal biogenesis factor 7
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SUMF1 sulfatase modifying factor 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM70 transmembrane protein 70
TWIST1 twist family bHLH transcription factor 1
XYLT1 xylosyltransferase I