abnormality of the forehead Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomalyof the forehead. (Human Phenotype Ontology, HP_0000290)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000290
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ADK adenosine kinase
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
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
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ARL13B ADP-ribosylation factor-like 13B
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
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
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CCND2 cyclin D2
CD96 CD96 molecule
CDC6 cell division cycle 6
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
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
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COLEC11 collectin sub-family member 11
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CSPP1 centrosome and spindle pole associated protein 1
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSK cathepsin K
CUL7 cullin 7
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
DLX3 distal-less homeobox 3
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DSE dermatan sulfate epimerase
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
ELN elastin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
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
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBN2 fibrillin 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FNBP4 formin binding protein 4
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GDF1 growth differentiation factor 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GK glycerol kinase
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GPC6 glypican 6
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
ISPD isoprenoid synthase domain containing
ITCH itchy E3 ubiquitin protein ligase
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNK9 potassium channel, two pore domain subfamily K, member 9
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LTBP4 latent transforming growth factor beta binding protein 4
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
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGP matrix Gla protein
MID1 midline 1
MKS1 Meckel syndrome, type 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPST mercaptopyruvate sulfurtransferase
MSX2 msh homeobox 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
NBN nibrin
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHEJ1 nonhomologous end-joining factor 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC1 origin recognition complex, subunit 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PEPD peptidase D
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
PEX7 peroxisomal biogenesis factor 7
PHEX phosphate regulating endopeptidase homolog, X-linked
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
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)
PITX2 paired-like homeodomain 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PMM2 phosphomannomutase 2
POC1A POC1 centriolar protein A
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
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
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RBBP8 retinoblastoma binding protein 8
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RELN reelin
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF135 ring finger protein 135
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SEC23A Sec23 homolog A (S. cerevisiae)
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SH2B1 SH2B adaptor protein 1
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
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
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
STAMBP STAM binding protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STRADA STE20-related kinase adaptor alpha
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
SZT2 seizure threshold 2 homolog (mouse)
TBC1D20 TBC1 domain family, member 20
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TCF12 transcription factor 12
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
THOC6 THO complex 6
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC37 tetratricopeptide repeat domain 37
TTI2 TELO2 interacting protein 2
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST1 twist family bHLH transcription factor 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP9X ubiquitin specific peptidase 9, X-linked
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR62 WD repeat domain 62
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZFPM2 zinc finger protein, FOG family member 2
ZIC2 Zic family member 2
ZNF335 zinc finger protein 335
ZNF423 zinc finger protein 423