abnormality of corneal epithelium Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. (Human Phenotype Ontology, HP_0011495)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011495
Similar Terms
Downloads & Tools


59 genes associated with the abnormality of corneal epithelium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
AIRE autoimmune regulator
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
C4A complement component 4A (Rodgers blood group)
CERS3 ceramide synthase 3
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL7A1 collagen, type VII, alpha 1
CTNS cystinosin, lysosomal cystine transporter
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
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXC2 forkhead box C2
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HLA-B major histocompatibility complex, class I, B
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
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
KIF1BP KIF1 binding protein
LBR lamin B receptor
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEFV Mediterranean fever
MMP1 matrix metallopeptidase 1
MPV17 MpV17 mitochondrial inner membrane protein
NIPAL4 NIPA-like domain containing 4
NOD2 nucleotide-binding oligomerization domain containing 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAX6 paired box 6
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PNPLA1 patatin-like phospholipase domain containing 1
POLH polymerase (DNA directed), eta
PRDM5 PR domain containing 5
SAT1 spermidine/spermine N1-acetyltransferase 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SPINT2 serine peptidase inhibitor, Kunitz type, 2
STAT4 signal transducer and activator of transcription 4
TAT tyrosine aminotransferase
TGFBI transforming growth factor, beta-induced, 68kDa
TGM1 transglutaminase 1
TLR4 toll-like receptor 4
TNXB tenascin XB
TP63 tumor protein p63
VSX1 visual system homeobox 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZNF469 zinc finger protein 469