Frontal Bossing Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. (Human Phenotype Ontology, HP_0002007)
External Link https://www.disgenet.org/browser/0/1/0/C0221354
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Genes

319 genes associated with the disease Frontal Bossing in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAN aggrecan
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTL6B actin-like 6B
ADK adenosine kinase
AIP aryl hydrocarbon receptor interacting protein
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH6A1 aldehyde dehydrogenase 6 family, member A1
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
ALX4 ALX homeobox 4
AMACR alpha-methylacyl-CoA racemase
AMER1 APC membrane recruitment protein 1
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
APC adenomatous polyposis coli
APC2 adenomatosis polyposis coli 2
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ATAD3A ATPase family, AAA domain containing 3A
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GLCT beta 3-glucosyltransferase
B9D2 B9 protein domain 2
BGN biglycan
BMPR1A bone morphogenetic protein receptor, type IA
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRWD3 bromodomain and WD repeat domain containing 3
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CAMKMT calmodulin-lysine N-methyltransferase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP57 centrosomal protein 57kDa
CHD1 chromodomain helicase DNA binding protein 1
CHD3 chromodomain helicase DNA binding protein 3
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CKAP2L cytoskeleton associated protein 2-like
CLCN7 chloride channel, voltage-sensitive 7
CNTNAP1 contactin associated protein 1
CNTNAP2 contactin associated protein-like 2
COG4 component of oligomeric golgi complex 4
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CRIPT cysteine-rich PDZ-binding protein
CSPP1 centrosome and spindle pole associated protein 1
CTBP1 C-terminal binding protein 1
CTNS cystinosin, lysosomal cystine transporter
CTSK cathepsin K
CUL7 cullin 7
CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae)
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DDR2 discoidin domain receptor tyrosine kinase 2
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DEAF1 DEAF1 transcription factor
DENND5A DENN/MADD domain containing 5A
DHCR24 24-dehydrocholesterol reductase
DICER1 dicer 1, ribonuclease type III
DLX3 distal-less homeobox 3
DSE dermatan sulfate epimerase
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EFNB1 ephrin-B1
EP300 E1A binding protein p300
EPB41 erythrocyte membrane protein band 4.1
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
FAM149B1 family with sequence similarity 149, member B1
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FUCA1 fucosidase, alpha-L- 1, tissue
FZD2 frizzled class receptor 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATAD2B GATA zinc finger domain containing 2B
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJA8 gap junction protein, alpha 8, 50kDa
GK glycerol kinase
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GMNN geminin, DNA replication inhibitor
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNS glucosamine (N-acetyl)-6-sulfatase
GPC6 glypican 6
GPR101 G protein-coupled receptor 101
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GYPC glycophorin C (Gerbich blood group)
H3F3A H3 histone, family 3A
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HMGA2 high mobility group AT-hook 2
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT43 intraflagellar transport 43
IFT52 intraflagellar transport 52
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPPL1 inositol polyphosphate phosphatase-like 1
INTU inturned planar cell polarity protein
IQSEC2 IQ motif and Sec7 domain 2
ISPD isoprenoid synthase domain containing
ITCH itchy E3 ubiquitin protein ligase
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KDM1A lysine (K)-specific demethylase 1A
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIAA0753 KIAA0753
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KLC4 kinesin light chain 4
KMT2A lysine (K)-specific methyltransferase 2A
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
KYNU kynureninase
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGEL2 melanoma antigen family L2
MAN1B1 mannosidase, alpha, class 1B, member 1
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
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
MID1 midline 1
MITF microphthalmia-associated transcription factor
MMP2 matrix metallopeptidase 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPDZ multiple PDZ domain protein
MSX2 msh homeobox 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NCAPG2 non-SMC condensin II complex, subunit G2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NID1 nidogen 1
NLRC4 NLR family, CARD domain containing 4
NLRP3 NLR family, pyrin domain containing 3
NONO non-POU domain containing, octamer-binding
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
NXN nucleoredoxin
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC1 origin recognition complex, subunit 1
P4HB prolyl 4-hydroxylase, beta polypeptide
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PALB2 partner and localizer of BRCA2
PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae)
PCGF2 polycomb group ring finger 2
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PHEX phosphate regulating endopeptidase homolog, X-linked
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)
POR P450 (cytochrome) oxidoreductase
POU1F1 POU class 1 homeobox 1
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PRDM16 PR domain containing 16
PREPL prolyl endopeptidase-like
PRMT7 protein arginine methyltransferase 7
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTHLH parathyroid hormone-like hormone
PTPA protein phosphatase 2 phosphatase activator
PYCR1 pyrroline-5-carboxylate reductase 1
RAB39B RAB39B, member RAS oncogene family
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RECQL4 RecQ protein-like 4
RERE arginine-glutamic acid dipeptide (RE) repeats
RFWD3 ring finger and WD repeat domain 3
RNPC3 RNA-binding region (RNP1, RRM) containing 3
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEC23A Sec23 homolog A (S. cerevisiae)
SEC24D SEC24 family member D
SETBP1 SET binding protein 1
SETD2 SET domain containing 2
SIK3 SIK family kinase 3
SIX2 SIX homeobox 2
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLX4 SLX4 structure-specific endonuclease subunit
SMOC1 SPARC related modular calcium binding 1
SNX10 sorting nexin 10
SON SON DNA binding protein
SOST sclerostin
SOX2 SRY (sex determining region Y)-box 2
SOX5 SRY (sex determining region Y)-box 5
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPRTN SprT-like N-terminal domain
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STAG2 stromal antigen 2
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBX15 T-box 15
TBX4 T-box 4
TCF12 transcription factor 12
TCF20 transcription factor 20 (AR1)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TGFB1 transforming growth factor, beta 1
TMEM216 transmembrane protein 216
TONSL tonsoku-like, DNA repair protein
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TRIP13 thyroid hormone receptor interactor 13
TRPS1 trichorhinophalangeal syndrome I
TTC37 tetratricopeptide repeat domain 37
TWIST1 twist family bHLH transcription factor 1
UBE2T ubiquitin-conjugating enzyme E2T
UNC80 unc-80 homolog (C. elegans)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WASHC5 WASH complex subunit 5
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT5A wingless-type MMTV integration site family, member 5A
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZIC1 Zic family member 1
ZNF148 zinc finger protein 148