inflammatory abnormality of the eye Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Inflammation of the eye, parts of the eye or the periorbital region. (Human Phenotype Ontology, HP_0100533)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100533
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Genes

123 genes associated with the inflammatory abnormality of the eye 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
ADAM17 ADAM metallopeptidase domain 17
AIRE autoimmune regulator
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANKRD55 ankyrin repeat domain 55
APOE apolipoprotein E
ATOH7 atonal homolog 7 (Drosophila)
BIRC3 baculoviral IAP repeat containing 3
BLNK B-cell linker
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
C4A complement component 4A (Rodgers blood group)
CAPN5 calpain 5
CD19 CD19 molecule
CD247 CD247 molecule
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CERS3 ceramide synthase 3
COL7A1 collagen, type VII, alpha 1
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DDB2 damage-specific DNA binding protein 2, 48kDa
DKC1 dyskeratosis congenita 1, dyskerin
DNASE1L3 deoxyribonuclease I-like 3
DRD5 dopamine receptor D5
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
FAS Fas cell surface death receptor
FERMT1 fermitin family member 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXC2 forkhead box C2
FOXP1 forkhead box P1
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
HDAC8 histone deacetylase 8
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
ICOS inducible T-cell co-stimulator
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
LBR lamin B receptor
LPIN2 lipin 2
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC8A leucine rich repeat containing 8 family, member A
MALT1 MALT1 paracaspase
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEFV Mediterranean fever
MLX MLX, MAX dimerization protein
MMP1 matrix metallopeptidase 1
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAX6 paired box 6
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKP1 plakophilin 1
PLCD1 phospholipase C, delta 1
PLEC plectin
PLG plasminogen
PNPLA1 patatin-like phospholipase domain containing 1
POLH polymerase (DNA directed), eta
PRTN3 proteinase 3
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD21 RAD21 homolog (S. pombe)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
SAMD9 sterile alpha motif domain containing 9
SAT1 spermidine/spermine N1-acetyltransferase 1
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
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)
STAT4 signal transducer and activator of transcription 4
TAT tyrosine aminotransferase
TBX2 T-box 2
TBX4 T-box 4
TCF3 transcription factor 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TYK2 tyrosine kinase 2
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VSX1 visual system homeobox 1
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C