prominent forehead Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Forward prominence of the entire forehead, due to protrusion of the frontal bone. (Human Phenotype Ontology, HP_0011220)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011220
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Genes

63 genes associated with the prominent forehead 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
ADNP activity-dependent neuroprotector homeobox
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRWD3 bromodomain and WD repeat domain containing 3
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCND2 cyclin D2
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
COL27A1 collagen, type XXVII, alpha 1
CPT2 carnitine palmitoyltransferase 2
D2HGDH D-2-hydroxyglutarate dehydrogenase
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FAM111A family with sequence similarity 111, member A
FLNA filamin A, alpha
FLNB filamin B, beta
FUCA1 fucosidase, alpha-L- 1, tissue
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNS glucosamine (N-acetyl)-6-sulfatase
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KIF11 kinesin family member 11
KIF7 kinesin family member 7
LRP4 low density lipoprotein receptor-related protein 4
LRPPRC leucine-rich pentatricopeptide repeat containing
MED12 mediator complex subunit 12
MID1 midline 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NALCN sodium leak channel, non selective
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OPHN1 oligophrenin 1
PEPD peptidase D
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PMM2 phosphomannomutase 2
POC1A POC1 centriolar protein A
POU1F1 POU class 1 homeobox 1
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SMOC1 SPARC related modular calcium binding 1
SP7 Sp7 transcription factor
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUMF1 sulfatase modifying factor 1
TBCE tubulin folding cofactor E
TTC37 tetratricopeptide repeat domain 37
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP9X ubiquitin specific peptidase 9, X-linked
ZBTB18 zinc finger and BTB domain containing 18