abnormality of the eyebrow Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the eyebrow. (Human Phenotype Ontology, HP_0000534)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000534
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ACTG1 actin gamma 1
ADA adenosine deaminase
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALX1 ALX homeobox 1
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
APCDD1 adenomatosis polyposis coli down-regulated 1
APTX aprataxin
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
B3GAT3 beta-1,3-glucuronyltransferase 3
B9D1 B9 protein domain 1
BANF1 barrier to autointegration factor 1
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCDC8 coiled-coil domain containing 8
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDON cell adhesion associated, oncogene regulated
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CLDN1 claudin 1
CLP1 cleavage and polyadenylation factor I subunit 1
COL11A1 collagen, type XI, alpha 1
COL3A1 collagen, type III, alpha 1
COLEC11 collectin sub-family member 11
COX7B cytochrome c oxidase subunit VIIb
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CUL7 cullin 7
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DEAF1 DEAF1 transcription factor
DKC1 dyskeratosis congenita 1, dyskerin
DOCK7 dedicator of cytokinesis 7
DOLK dolichol kinase
DSC3 desmocollin 3
DSG4 desmoglein 4
DSP desmoplakin
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDN3 endothelin 3
EDNRB endothelin receptor type B
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EPS8L3 EPS8-like 3
EXT1 exostosin glycosyltransferase 1
FAM111A family with sequence similarity 111, member A
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FBXL4 F-box and leucine-rich repeat protein 4
FBXO31 F-box protein 31
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FNBP4 formin binding protein 4
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GRIP1 glutamate receptor interacting protein 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HMGA2 high mobility group AT-hook 2
HR hair growth associated
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRX5 iroquois homeobox 5
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNK9 potassium channel, two pore domain subfamily K, member 9
KDM6A lysine (K)-specific demethylase 6A
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT17 keratin 17, type I
KRT71 keratin 71, type II
KRT74 keratin 74, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT85 keratin 85, type II
KRT86 keratin 86, type II
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LIPH lipase, member H
LIPN lipase, family member N
LMNA lamin A/C
LPAR6 lysophosphatidic acid receptor 6
LRPPRC leucine-rich pentatricopeptide repeat containing
LZTFL1 leucine zipper transcription factor-like 1
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
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PAX3 paired box 3
PCNT pericentrin
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PKP1 plakophilin 1
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAD21 RAD21 homolog (S. pombe)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1L RPGRIP1-like
RPL21 ribosomal protein L21
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SCARF2 scavenger receptor class F, member 2
SDCCAG8 serologically defined colon cancer antigen 8
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGSH N-sulfoglucosamine sulfohydrolase
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKI SKI proto-oncogene
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNAI2 snail family zinc finger 2
SNRPE small nuclear ribonucleoprotein polypeptide E
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
SZT2 seizure threshold 2 homolog (mouse)
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
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
TRAPPC9 trafficking protein particle complex 9
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TWIST2 twist family bHLH transcription factor 2
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
USB1 U6 snRNA biogenesis 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53
ZBTB20 zinc finger and BTB domain containing 20
ZEB2 zinc finger E-box binding homeobox 2
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423