aplasia/hypoplasia of the eyebrow Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the eyebrow. (Human Phenotype Ontology, HP_0100840)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100840
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Genes

95 genes associated with the aplasia/hypoplasia 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
ADA adenosine deaminase
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
BANF1 barrier to autointegration factor 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDH3 cadherin 3, type 1, P-cadherin (placental)
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLDN1 claudin 1
COL11A1 collagen, type XI, alpha 1
COL3A1 collagen, type III, alpha 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DOLK dolichol kinase
DSC3 desmocollin 3
DSG4 desmoglein 4
DSP desmoplakin
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EPS8L3 EPS8-like 3
FAM111A family with sequence similarity 111, member A
FIG4 FIG4 phosphoinositide 5-phosphatase
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GRIP1 glutamate receptor interacting protein 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HR hair growth associated
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
IRX5 iroquois homeobox 5
KDM6A lysine (K)-specific demethylase 6A
KIF1BP KIF1 binding protein
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
KRT85 keratin 85, type II
LIG4 ligase IV, DNA, ATP-dependent
LIPH lipase, member H
LIPN lipase, family member N
LMNA lamin A/C
LPAR6 lysophosphatidic acid receptor 6
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEGF8 multiple EGF-like-domains 8
MITF microphthalmia-associated transcription factor
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NF1 neurofibromin 1
NIPAL4 NIPA-like domain containing 4
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OTX2 orthodenticle homeobox 2
PCNT pericentrin
PQBP1 polyglutamine binding protein 1
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
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
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)
RPL21 ribosomal protein L21
SAT1 spermidine/spermine N1-acetyltransferase 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SNRPE small nuclear ribonucleoprotein polypeptide E
SOS1 son of sevenless homolog 1 (Drosophila)
SOX18 SRY (sex determining region Y)-box 18
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TBX3 T-box 3
TGM1 transglutaminase 1
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
TWIST2 twist family bHLH transcription factor 2
UBE3B ubiquitin protein ligase E3B
WNT10A wingless-type MMTV integration site family, member 10A
ZMPSTE24 zinc metallopeptidase STE24