broad forehead Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. (Human Phenotype Ontology, HP_0000337)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000337
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Genes

77 genes associated with the broad forehead phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
AIP aryl hydrocarbon receptor interacting protein
ANTXR1 anthrax toxin receptor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP1 bone morphogenetic protein 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCBE1 collagen and calcium binding EGF domains 1
CCDC8 coiled-coil domain containing 8
CDKL5 cyclin-dependent kinase-like 5
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIP2 CAP-GLY domain containing linker protein 2
COL2A1 collagen, type II, alpha 1
COLEC11 collectin sub-family member 11
CUL7 cullin 7
DLL3 delta-like 3 (Drosophila)
ELN elastin
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLII flightless I homolog (Drosophila)
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA5 gap junction protein, alpha 5, 40kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HES7 hes family bHLH transcription factor 7
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIMK1 LIM domain kinase 1
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
MAN2B1 mannosidase, alpha, class 2B, member 1
MBD5 methyl-CpG binding domain protein 5
MEF2C myocyte enhancer factor 2C
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
NKX2-5 NK2 homeobox 5
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
OBSL1 obscurin-like 1
PEX3 peroxisomal biogenesis factor 3
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POLE polymerase (DNA directed), epsilon, catalytic subunit
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PYCR1 pyrroline-5-carboxylate reductase 1
RAI1 retinoic acid induced 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RNF135 ring finger protein 135
SH2B1 SH2B adaptor protein 1
SH3PXD2B SH3 and PX domains 2B
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
TBC1D7 TBC1 domain family, member 7
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCF12 transcription factor 12
TCTN2 tectonic family member 2
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TWIST1 twist family bHLH transcription factor 1
ZBTB20 zinc finger and BTB domain containing 20
ZFPM2 zinc finger protein, FOG family member 2