abnormality of the conjunctiva Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the conjunctiva. (Human Phenotype Ontology, HP_0000502)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000502
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Genes

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

Symbol Name
ACVRL1 activin A receptor type II-like 1
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATM ATM serine/threonine kinase
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
C4A complement component 4A (Rodgers blood group)
CD19 CD19 molecule
CD79B CD79b molecule, immunoglobulin-associated beta
COL7A1 collagen, type VII, alpha 1
CTSA cathepsin A
DDB2 damage-specific DNA binding protein 2, 48kDa
DKC1 dyskeratosis congenita 1, dyskerin
DRD5 dopamine receptor D5
ENG endoglin
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
FGF23 fibroblast growth factor 23
FGFR2 fibroblast growth factor receptor 2
FOXC2 forkhead box C2
FUCA1 fucosidase, alpha-L- 1, tissue
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GDF2 growth differentiation factor 2
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HLA-B major histocompatibility complex, class I, B
ICOS inducible T-cell co-stimulator
IGHM immunoglobulin heavy constant mu
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
KL klotho
KLLN killin, p53-regulated DNA replication inhibitor
KRT1 keratin 1, type II
KRT10 keratin 10, type I
LBR lamin B receptor
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
MANBA mannosidase, beta A, lysosomal
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MEFV Mediterranean fever
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
PCNA proliferating cell nuclear antigen
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX2 paired-like homeodomain 2
PLG plasminogen
POLH polymerase (DNA directed), eta
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
SALL1 spalt-like transcription factor 1
SAMD9 sterile alpha motif domain containing 9
SAT1 spermidine/spermine N1-acetyltransferase 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SETX senataxin
SMAD4 SMAD family member 4
STAT4 signal transducer and activator of transcription 4
TLR4 toll-like receptor 4
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNXB tenascin XB
TP63 tumor protein p63
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C