Exfoliation Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_13641)
External Link https://www.disgenet.org/browser/0/1/0/C0206368
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Genes

85 genes associated with the disease Exfoliation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTB actin, beta
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1
AHSG alpha-2-HS-glycoprotein
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
APOE apolipoprotein E
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
ATG2B autophagy related 2B
ATG5 autophagy related 5
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CCDC167 coiled-coil domain containing 167
CCL16 chemokine (C-C motif) ligand 16
CCL2 chemokine (C-C motif) ligand 2
CCN2 cellular communication network factor 2
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLU clusterin
CMPK1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic
CNTNAP2 contactin associated protein-like 2
COL18A1 collagen, type XVIII, alpha 1
COX2
CPE carboxypeptidase E
CRP C-reactive protein, pentraxin-related
CRYBB2 crystallin, beta B2
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL8 chemokine (C-X-C motif) ligand 8
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EGF epidermal growth factor
ELN elastin
FBLN5 fibulin 5
FOXC1 forkhead box C1
GC group-specific component (vitamin D binding protein)
GGT1 gamma-glutamyltransferase 1
GGTLC3 gamma-glutamyltransferase light chain 3
GLS glutaminase
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HPGDS hematopoietic prostaglandin D synthase
IGF1 insulin-like growth factor 1 (somatomedin C)
IL6 interleukin 6
KNG1 kininogen 1
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
LTBP2 latent transforming growth factor beta binding protein 2
LYST lysosomal trafficking regulator
MARCHF1 membrane associated ring-CH-type finger 1
MGST1 microsomal glutathione S-transferase 1
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PCNA proliferating cell nuclear antigen
PEX19 peroxisomal biogenesis factor 19
PHEX phosphate regulating endopeptidase homolog, X-linked
PLXNA2 plexin A2
PML promyelocytic leukemia
POMP proteasome maturation protein
PON1 paraoxonase 1
PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RBMS3 RNA binding motif, single stranded interacting protein 3
RBP3 retinol binding protein 3, interstitial
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SOD2 superoxide dismutase 2, mitochondrial
SOX2 SRY (sex determining region Y)-box 2
TBC1D21 TBC1 domain family, member 21
TGFB1 transforming growth factor, beta 1
TGM2 transglutaminase 2
TLR4 toll-like receptor 4
TMEM136 transmembrane protein 136
TNC tenascin C
TNF tumor necrosis factor
TXNRD2 thioredoxin reductase 2
UBB ubiquitin B
WNT5A wingless-type MMTV integration site family, member 5A
XPO5 exportin 5