Sveinsson Chorioretinal Atrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1862382
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Genes

130 genes associated with the disease Sveinsson Chorioretinal Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTR2 ARP2 actin-related protein 2 homolog (yeast)
APOA1 apolipoprotein A-I
APOD apolipoprotein D
AR androgen receptor
ATP8B4 ATPase, class I, type 8B, member 4
BDNF brain-derived neurotrophic factor
BRCA1 breast cancer 1, early onset
CASP12 caspase 12 (gene/pseudogene)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CCL3 chemokine (C-C motif) ligand 3
CCL5 chemokine (C-C motif) ligand 5
CCNB1 cyclin B1
CD274 CD274 molecule
CDC42 cell division cycle 42
CDKN2A cyclin-dependent kinase inhibitor 2A
CHGA chromogranin A
CRP C-reactive protein, pentraxin-related
CTDSP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
DLG4 discs, large homolog 4 (Drosophila)
EBF1 early B-cell factor 1
EDNRA endothelin receptor type A
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ENO2 enolase 2 (gamma, neuronal)
EPHB2 EPH receptor B2
ERBB2 erb-b2 receptor tyrosine kinase 2
ESRRA estrogen-related receptor alpha
FAS Fas cell surface death receptor
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FOXO1 forkhead box O1
FOXO3 forkhead box O3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GCG glucagon
GDF1 growth differentiation factor 1
GLI1 GLI family zinc finger 1
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPNMB glycoprotein (transmembrane) nmb
GPX3 glutathione peroxidase 3
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSPA1B heat shock 70kDa protein 1B
ICOSLG inducible T-cell co-stimulator ligand
IDS iduronate 2-sulfatase
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
IGFBP4 insulin-like growth factor binding protein 4
IL10 interleukin 10
IL16 interleukin 16
IL17A interleukin 17A
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL23A interleukin 23, alpha subunit p19
IL2RA interleukin 2 receptor, alpha
IL4 interleukin 4
IL6 interleukin 6
IRS1 insulin receptor substrate 1
KDM2A lysine (K)-specific demethylase 2A
KLK3 kallikrein-related peptidase 3
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MGMT O-6-methylguanine-DNA methyltransferase
MLH1 mutL homolog 1
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MRC1 mannose receptor, C type 1
MSH2 mutS homolog 2
NCF1 neutrophil cytosolic factor 1
NPEPPS aminopeptidase puromycin sensitive
NPTX1 neuronal pentraxin I
NRP1 neuropilin 1
ODC1 ornithine decarboxylase 1
OPRM1 opioid receptor, mu 1
PCSK7 proprotein convertase subtilisin/kexin type 7
PDCD1LG2 programmed cell death 1 ligand 2
PDE4A phosphodiesterase 4A, cAMP-specific
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAG1 pleiomorphic adenoma gene 1
POMC proopiomelanocortin
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PROS1 protein S (alpha)
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PSG1 pregnancy specific beta-1-glycoprotein 1
PSG2 pregnancy specific beta-1-glycoprotein 2
PSG7 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)
PSG8 pregnancy specific beta-1-glycoprotein 8
PTOV1 prostate tumor overexpressed 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RETN resistin
RNH1 ribonuclease/angiogenin inhibitor 1
RPE ribulose-5-phosphate-3-epimerase
SBF2 SET binding factor 2
SCPEP1 serine carboxypeptidase 1
SHC3 SHC (Src homology 2 domain containing) transforming protein 3
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SPP1 secreted phosphoprotein 1
SREBF1 sterol regulatory element binding transcription factor 1
STAT1 signal transducer and activator of transcription 1, 91kDa
SYCP1 synaptonemal complex protein 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TERT telomerase reverse transcriptase
TGFB3 transforming growth factor, beta 3
TNC tenascin C
TNF tumor necrosis factor
TTR transthyretin
UCN3 urocortin 3
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VKORC1 vitamin K epoxide reductase complex, subunit 1