facial hypertrichosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002219
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52 genes associated with the facial hypertrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AIP aryl hydrocarbon receptor interacting protein
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
CDON cell adhesion associated, oncogene regulated
CHSY1 chondroitin sulfate synthase 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FLII flightless I homolog (Drosophila)
FREM1 FRAS1 related extracellular matrix 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNS glucosamine (N-acetyl)-6-sulfatase
HDAC8 histone deacetylase 8
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HMGA2 high mobility group AT-hook 2
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
KIF1BP KIF1 binding protein
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
LEMD3 LEM domain containing 3
MBD5 methyl-CpG binding domain protein 5
MITF microphthalmia-associated transcription factor
NAGLU N-acetylglucosaminidase, alpha
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PAX3 paired box 3
PHF8 PHD finger protein 8
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
SETD5 SET domain containing 5
SGSH N-sulfoglucosamine sulfohydrolase
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
TMCO1 transmembrane and coiled-coil domains 1
TRAPPC9 trafficking protein particle complex 9
TTI2 TELO2 interacting protein 2
UBE2A ubiquitin-conjugating enzyme E2A
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UROD uroporphyrinogen decarboxylase
ZBTB20 zinc finger and BTB domain containing 20
ZIC2 Zic family member 2