Neuromyelitis Optica Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. (Human Disease Ontology, DOID_8869)
External Link https://www.disgenet.org/browser/0/1/0/C0027873
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Genes

159 genes associated with the disease Neuromyelitis Optica in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
ALB albumin
AMH anti-Mullerian hormone
ANGPT1 angiopoietin 1
AQP1 aquaporin 1 (Colton blood group)
AQP4 aquaporin 4
ASCC2 activating signal cointegrator 1 complex subunit 2
ATG5 autophagy related 5
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
CADM1 cell adhesion molecule 1
CCL11 chemokine (C-C motif) ligand 11
CCL13 chemokine (C-C motif) ligand 13
CCL19 chemokine (C-C motif) ligand 19
CCL2 chemokine (C-C motif) ligand 2
CCL26 chemokine (C-C motif) ligand 26
CCL3 chemokine (C-C motif) ligand 3
CCL7 chemokine (C-C motif) ligand 7
CCR3 chemokine (C-C motif) receptor 3
CD163 CD163 molecule
CD19 CD19 molecule
CD27 CD27 molecule
CD274 CD274 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD58 CD58 molecule
CD59 CD59 molecule, complement regulatory protein
CD68 CD68 molecule
CFH complement factor H
CFHR1 complement factor H-related 1
CH25H cholesterol 25-hydroxylase
CISH cytokine inducible SH2-containing protein
CLU clusterin
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRP C-reactive protein, pentraxin-related
CSAD cysteine sulfinic acid decarboxylase
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CST3 cystatin C
CUX1 cut-like homeobox 1
CXCL13 chemokine (C-X-C motif) ligand 13
CXCR2 chemokine (C-X-C motif) receptor 2
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
EIF3K eukaryotic translation initiation factor 3, subunit K
EPO erythropoietin
FAM188B family with sequence similarity 188, member B
FAM19A5 family with sequence similarity 19 (chemokine (C-C motif)-like), member A5
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCRL3 Fc receptor-like 3
FOXP3 forkhead box P3
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
FZD4 frizzled class receptor 4
GFAP glial fibrillary acidic protein
GPC5 glypican 5
GPR151 G protein-coupled receptor 151
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRN granulin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-G major histocompatibility complex, class I, G
HMGB1 high mobility group box 1
HP haptoglobin
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IFI30 interferon, gamma-inducible protein 30
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNB1 interferon, beta 1, fibroblast
IL10 interleukin 10
IL15 interleukin 15
IL16 interleukin 16
IL17A interleukin 17A
IL19 interleukin 19
IL1B interleukin 1, beta
IL21 interleukin 21
IL22 interleukin 22
IL25 interleukin 25
IL2RA interleukin 2 receptor, alpha
IL31 interleukin 31
IL33 interleukin 33
IL36A interleukin 36, alpha
IL4 interleukin 4
IL6 interleukin 6
IL6R interleukin 6 receptor
IL7 interleukin 7
IL7R interleukin 7 receptor
IL9 interleukin 9
IRF5 interferon regulatory factor 5
IRF8 interferon regulatory factor 8
KRT20 keratin 20, type I
LAMC2 laminin, gamma 2
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LPAR3 lysophosphatidic acid receptor 3
MBP myelin basic protein
MIP major intrinsic protein of lens fiber
MMP9 matrix metallopeptidase 9
MOG myelin oligodendrocyte glycoprotein
MPO myeloperoxidase
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSC musculin
MYDGF myeloid-derived growth factor
NEFL neurofilament, light polypeptide
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa
OPA1 optic atrophy 1 (autosomal dominant)
OXER1 oxoeicosanoid (OXE) receptor 1
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
PLXNA2 plexin A2
PMEL premelanosome protein
PRDM1 PR domain containing 1, with ZNF domain
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTX3 pentraxin 3, long
QKI QKI, KH domain containing, RNA binding
RASL12 RAS-like, family 12
RBM45 RNA binding motif protein 45
RGMA repulsive guidance molecule family member a
S100B S100 calcium binding protein B
SART3 squamous cell carcinoma antigen recognized by T cells 3
SDC1 syndecan 1
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SND1 staphylococcal nuclease and tudor domain containing 1
SPP1 secreted phosphoprotein 1
STAT4 signal transducer and activator of transcription 4
SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3
SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4
TEK TEK tyrosine kinase, endothelial
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TIMP1 TIMP metallopeptidase inhibitor 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNXB tenascin XB
TPMT thiopurine S-methyltransferase
TPX2 TPX2, microtubule-associated
TSPAN33 tetraspanin 33
UBC ubiquitin C