Blepharitis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. (Human Disease Ontology, DOID_9423)
External Link https://www.disgenet.org/browser/0/1/0/C0005741
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Genes

54 genes associated with the disease Blepharitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
APOE apolipoprotein E
COL7A1 collagen, type VII, alpha 1
CST6 cystatin E/M
CTC1 CTS telomere maintenance complex component 1
CX3CL1 chemokine (C-X3-C motif) ligand 1
DDB2 damage-specific DNA binding protein 2, 48kDa
DKC1 dyskeratosis congenita 1, dyskerin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJB6 gap junction protein, beta 6, 30kDa
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HDAC8 histone deacetylase 8
IL4 interleukin 4
KMT2A lysine (K)-specific methyltransferase 2A
LACRT lacritin
LTB4R leukotriene B4 receptor
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP1 matrix metallopeptidase 1
MMP9 matrix metallopeptidase 9
MSMO1 methylsterol monooxygenase 1
NHP2 NHP2 ribonucleoprotein
NIPBL Nipped-B homolog (Drosophila)
NOP10 NOP10 ribonucleoprotein
PARN poly(A)-specific ribonuclease
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PKP1 plakophilin 1
PLCD1 phospholipase C, delta 1
PLXND1 plexin D1
PSIP1 PC4 and SFRS1 interacting protein 1
RAD21 RAD21 homolog (S. pombe)
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RTEL1 regulator of telomere elongation helicase 1
SETD5 SET domain containing 5
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT1 signal transducer and activator of transcription 1, 91kDa
TBX4 T-box 4
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C