keratitis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000491
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Genes

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

Symbol Name
AIRE autoimmune regulator
C4A complement component 4A (Rodgers blood group)
DDB2 damage-specific DNA binding protein 2, 48kDa
DRD5 dopamine receptor D5
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
GJB2 gap junction protein, beta 2, 26kDa
HLA-B major histocompatibility complex, class I, B
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
LBR lamin B receptor
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEFV Mediterranean fever
NOD2 nucleotide-binding oligomerization domain containing 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAX6 paired box 6
PLEC plectin
POLH polymerase (DNA directed), eta
SAT1 spermidine/spermine N1-acetyltransferase 1
STAT4 signal transducer and activator of transcription 4
TLR4 toll-like receptor 4
TNXB tenascin XB
VSX1 visual system homeobox 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C