blepharitis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0000498
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Genes

23 genes associated with the blepharitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
APOE apolipoprotein E
COL7A1 collagen, type VII, alpha 1
DKC1 dyskeratosis congenita 1, dyskerin
GJB6 gap junction protein, beta 6, 30kDa
HDAC8 histone deacetylase 8
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP1 matrix metallopeptidase 1
NIPBL Nipped-B homolog (Drosophila)
PKP1 plakophilin 1
PLCD1 phospholipase C, delta 1
RAD21 RAD21 homolog (S. pombe)
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SAT1 spermidine/spermine N1-acetyltransferase 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TBX2 T-box 2
TBX4 T-box 4
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
USB1 U6 snRNA biogenesis 1
WNT10A wingless-type MMTV integration site family, member 10A