facial asymmetry Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal difference between the left and right sides of the face. (Human Phenotype Ontology, HP_0000324)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000324
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Genes

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

Symbol Name
ANKRD11 ankyrin repeat domain 11
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
BCR breakpoint cluster region
BMP4 bone morphogenetic protein 4
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C12ORF57 chromosome 12 open reading frame 57
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL1A1 collagen, type I, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
EFNB1 ephrin-B1
ELOVL4 ELOVL fatty acid elongase 4
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
EYA1 EYA transcriptional coactivator and phosphatase 1
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GNAS GNAS complex locus
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HRAS Harvey rat sarcoma viral oncogene homolog
IGF2 insulin-like growth factor 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KRAS Kirsten rat sarcoma viral oncogene homolog
MAPK1 mitogen-activated protein kinase 1
MEOX1 mesenchyme homeobox 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NBAS neuroblastoma amplified sequence
NOG noggin
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PAX1 paired box 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PORCN porcupine homolog (Drosophila)
RAD51C RAD51 paralog C
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPT9 septin 9
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMS spermine synthase
SP7 Sp7 transcription factor
TCF12 transcription factor 12
TWIST1 twist family bHLH transcription factor 1