abnormality of the cheeks Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004426
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Genes

58 genes associated with the abnormality of the cheeks phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTSL2 ADAMTS-like 2
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AIP aryl hydrocarbon receptor interacting protein
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CLCF1 cardiotrophin-like cytokine factor 1
CRLF1 cytokine receptor-like factor 1
EDN1 endothelin 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF3 fibroblast growth factor 3
FLNA filamin A, alpha
GNAS GNAS complex locus
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IMPAD1 inositol monophosphatase domain containing 1
KIF11 kinesin family member 11
KRAS Kirsten rat sarcoma viral oncogene homolog
LMNA lamin A/C
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MKS1 Meckel syndrome, type 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCRL oculocerebrorenal syndrome of Lowe
PAX1 paired box 1
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIM1 single-minded family bHLH transcription factor 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
TAZ tafazzin
TCF4 transcription factor 4
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TUBB4A tubulin, beta 4A class IVa
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19