abnormality of the supraorbital ridges Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the supraorbital portion of the frontal bones. (Human Phenotype Ontology, HP_0100538)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100538
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ANTXR1 anthrax toxin receptor 1
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
EDA ectodysplasin A
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FBXO31 F-box protein 31
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FREM1 FRAS1 related extracellular matrix 1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GHR growth hormone receptor
GJA5 gap junction protein, alpha 5, 40kDa
GRIA3 glutamate receptor, ionotropic, AMPA 3
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC8 histone deacetylase 8
JAG1 jagged 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF11 kinesin family member 11
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MSX2 msh homeobox 2
NKX2-5 NK2 homeobox 5
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OPHN1 oligophrenin 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PHF6 PHD finger protein 6
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PTH1R parathyroid hormone 1 receptor
RAB23 RAB23, member RAS oncogene family
RBM10 RNA binding motif protein 10
SEC23A Sec23 homolog A (S. cerevisiae)
SP7 Sp7 transcription factor
TCF12 transcription factor 12
TTC37 tetratricopeptide repeat domain 37
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
ZFPM2 zinc finger protein, FOG family member 2