coarse facial features Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. (Human Phenotype Ontology, HP_0000280)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000280
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ACTG1 actin gamma 1
AGA aspartylglucosaminidase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIP aryl hydrocarbon receptor interacting protein
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSB arylsulfatase B
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CLIP2 CAP-GLY domain containing linker protein 2
COL2A1 collagen, type II, alpha 1
CTSA cathepsin A
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DYM dymeclin
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
FBXO31 F-box protein 31
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXE1 forkhead box E1
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
GALNS galactosamine (N-acetyl)-6-sulfatase
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
INSR insulin receptor
IYD iodotyrosine deiodinase
KAT6B K(lysine) acetyltransferase 6B
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIMK1 LIM domain kinase 1
MAGEL2 melanoma antigen family L2
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBD5 methyl-CpG binding domain protein 5
MCOLN1 mucolipin 1
MED12 mediator complex subunit 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MPL MPL proto-oncogene, thrombopoietin receptor
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
OFD1 oral-facial-digital syndrome 1
PAX8 paired box 8
PHF6 PHD finger protein 6
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
POU1F1 POU class 1 homeobox 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
PTCH2 patched 2
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SETBP1 SET binding protein 1
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SSTR5 somatostatin receptor 5
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBL2 transducin (beta)-like 2
TCF4 transcription factor 4
TG thyroglobulin
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TPO thyroid peroxidase
TRHR thyrotropin-releasing hormone receptor
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
WDR81 WD repeat domain 81