highly arched eyebrow Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. (Human Phenotype Ontology, HP_0002553)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002553
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Genes

73 genes associated with the highly arched eyebrow 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
ACTB actin, beta
ACTG1 actin gamma 1
AHI1 Abelson helper integration site 1
ANKRD11 ankyrin repeat domain 11
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
B9D1 B9 protein domain 1
BCOR BCL6 corepressor
BCR breakpoint cluster region
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
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
CLP1 cleavage and polyadenylation factor I subunit 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
ECEL1 endothelin converting enzyme-like 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FAM20C family with sequence similarity 20, member C
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
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
KMT2D lysine (K)-specific methyltransferase 2D
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LRPPRC leucine-rich pentatricopeptide repeat containing
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
MEGF8 multiple EGF-like-domains 8
MKS1 Meckel syndrome, type 1
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
NPHP1 nephronophthisis 1 (juvenile)
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAD21 RAD21 homolog (S. pombe)
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
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
SZT2 seizure threshold 2 homolog (mouse)
TBX2 T-box 2
TBX4 T-box 4
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
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
TWIST2 twist family bHLH transcription factor 2
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZNF423 zinc finger protein 423