round face Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The facial appearance is more circular than usual as viewed from the front. (Human Phenotype Ontology, HP_0000311)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000311
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Genes

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

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTSL2 ADAMTS-like 2
ALMS1 Alstrom syndrome protein 1
ANKRD11 ankyrin repeat domain 11
ARMC5 armadillo repeat containing 5
B3GALTL beta 1,3-galactosyltransferase-like
CANT1 calcium activated nucleotidase 1
CC2D2A coiled-coil and C2 domain containing 2A
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRTAP cartilage associated protein
CTNND2 catenin (cadherin-associated protein), delta 2
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLX3 distal-less homeobox 3
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
ECEL1 endothelin converting enzyme-like 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNAS GNAS complex locus
HDAC4 histone deacetylase 4
HOXD13 homeobox D13
KIAA2022 KIAA2022
LMNA lamin A/C
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
P3H1 prolyl 3-hydroxylase 1
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PLCB4 phospholipase C, beta 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RPGRIP1L RPGRIP1-like
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPT9 septin 9
SH3BP2 SH3-domain binding protein 2
SIM1 single-minded family bHLH transcription factor 1
TAZ tafazzin
TECPR2 tectonin beta-propeller repeat containing 2
TMEM67 transmembrane protein 67
XYLT1 xylosyltransferase I
ZBTB18 zinc finger and BTB domain containing 18
ZBTB24 zinc finger and BTB domain containing 24