Myasthenia Gravis 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_437)
External Link https://www.disgenet.org/browser/0/1/0/C0026896
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Genes

299 genes associated with the disease Myasthenia Gravis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1
ACHE acetylcholinesterase (Yt blood group)
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AIRE autoimmune regulator
ALB albumin
APOE apolipoprotein E
APRT adenine phosphoribosyltransferase
AQP4 aquaporin 4
ATN1 atrophin 1
ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
B3GAT1 beta-1,3-glucuronyltransferase 1
BCHE butyrylcholinesterase
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1
BTNL2 butyrophilin-like 2
C2 complement component 2
C4A complement component 4A (Rodgers blood group)
C4B complement component 4B (Chido blood group)
C4B_2 complement component 4B (Chido blood group), copy 2
C4ORF3 chromosome 4 open reading frame 3
C5 complement component 5
C6ORF10 chromosome 6 open reading frame 10
CA3 carbonic anhydrase III
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALCA calcitonin-related polypeptide alpha
CALCR calcitonin receptor
CAMP cathelicidin antimicrobial peptide
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV3 caveolin 3
CCAR2 cell cycle and apoptosis regulator 2
CCL17 chemokine (C-C motif) ligand 17
CCL21 chemokine (C-C motif) ligand 21
CCL22 chemokine (C-C motif) ligand 22
CCL5 chemokine (C-C motif) ligand 5
CCN2 cellular communication network factor 2
CCR2 chemokine (C-C motif) receptor 2
CCR4 chemokine (C-C motif) receptor 4
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR7 chemokine (C-C motif) receptor 7
CCR9 chemokine (C-C motif) receptor 9
CD19 CD19 molecule
CD274 CD274 molecule
CD28 CD28 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD69 CD69 molecule
CD83 CD83 molecule
CD86 CD86 molecule
CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase
CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1
CFB complement factor B
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLC Charcot-Leyden crystal galectin
CLEC4C C-type lectin domain family 4, member C
CNTFR ciliary neurotrophic factor receptor
CNTNAP2 contactin associated protein-like 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF1 colony stimulating factor 1 (macrophage)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSS cathepsin S
CTSV cathepsin V
CTTN cortactin
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL13 chemokine (C-X-C motif) ligand 13
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DCC DCC netrin 1 receptor
DDX39A DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOK7 docking protein 7
DPCR1 diffuse panbronchiolitis critical region 1
DPYSL5 dihydropyrimidinase-like 5
EBI3 Epstein-Barr virus induced 3
ECD ecdysoneless homolog (Drosophila)
EIF3K eukaryotic translation initiation factor 3, subunit K
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FAM136A family with sequence similarity 136, member A
FAM69A family with sequence similarity 69, member A
FAS Fas cell surface death receptor
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FGFR3 fibroblast growth factor receptor 3
FHDC1 FH2 domain containing 1
FLNB filamin B, beta
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOSL1 FOS-like antigen 1
FOXP3 forkhead box P3
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPANK1 G patch domain and ankyrin repeats 1
GPSM3 G-protein signaling modulator 3
GRAP2 GRB2-related adaptor protein 2
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRM2 glutamate receptor, metabotropic 2
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HIF3A hypoxia inducible factor 3, alpha subunit
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DOA major histocompatibility complex, class II, DO alpha
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-DQA2 major histocompatibility complex, class II, DQ alpha 2
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
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-G major histocompatibility complex, class I, G
HMGB1 high mobility group box 1
HNMT histamine N-methyltransferase
HOXD13 homeobox D13
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ICOS inducible T-cell co-stimulator
ICOSLG inducible T-cell co-stimulator ligand
IFIH1 interferon induced with helicase C domain 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNA17 interferon, alpha 17
IFNA2 interferon, alpha 2
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP1 insulin-like growth factor binding protein 1
IGL immunoglobulin lambda locus
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL15 interleukin 15
IL17A interleukin 17A
IL17F interleukin 17F
IL18R1 interleukin 18 receptor 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL33 interleukin 33
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
IL7R interleukin 7 receptor
IL9 interleukin 9
INS insulin
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
ISG20 interferon stimulated exonuclease gene 20kDa
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT20 keratin 20, type I
KRT5 keratin 5, type II
LDLR low density lipoprotein receptor
LGALS1 lectin, galactoside-binding, soluble, 1
LGALS8 lectin, galactoside-binding, soluble, 8
LGI1 leucine-rich, glioma inactivated 1
LIF leukemia inhibitory factor
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LOC102723407 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOC102724971 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LRP4 low density lipoprotein receptor-related protein 4
LTA lymphotoxin alpha
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MBP myelin basic protein
MBTPS1 membrane-bound transcription factor peptidase, site 1
MEFV Mediterranean fever
MFAP1 microfibrillar-associated protein 1
MICB MHC class I polypeptide-related sequence B
MMP10 matrix metallopeptidase 10
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSC musculin
MSH5 mutS homolog 5
MSL2 male-specific lethal 2 homolog (Drosophila)
MUC21 mucin 21, cell surface associated
MUSK muscle, skeletal, receptor tyrosine kinase
MYOG myogenin (myogenic factor 4)
MZB1 marginal zone B and B1 cell-specific protein
NCAM1 neural cell adhesion molecule 1
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
NOTCH4 notch 4
NTN1 netrin 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NXF1 nuclear RNA export factor 1
OSM oncostatin M
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAM peptidylglycine alpha-amidating monooxygenase
PAX7 paired box 7
PDCD1 programmed cell death 1
PDLIM7 PDZ and LIM domain 7 (enigma)
PMP22 peripheral myelin protein 22
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLR1H RNA polymerase I subunit H
POMC proopiomelanocortin
POU5F1 POU class 5 homeobox 1
PPP1R15A protein phosphatase 1, regulatory subunit 15A
PPP6R2 protein phosphatase 6, regulatory subunit 2
PRRC2A proline-rich coiled-coil 2A
PRSS16 protease, serine, 16 (thymus)
PSORS1C1 psoriasis susceptibility 1 candidate 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RBBP8 retinoblastoma binding protein 8
RBM45 RNA binding motif protein 45
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RETN resistin
RMDN2 regulator of microtubule dynamics 2
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNF39 ring finger protein 39
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
S100A11 S100 calcium binding protein A11
S100A8 S100 calcium binding protein A8
S100B S100 calcium binding protein B
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCO1 SCO1 cytochrome c oxidase assembly protein
SCO2 SCO2 cytochrome c oxidase assembly protein
SEC14L2 SEC14-like 2 (S. cerevisiae)
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SFTA2 surfactant associated 2
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SLAMF1 signaling lymphocytic activation molecule family member 1
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SOCS3 suppressor of cytokine signaling 3
SPP1 secreted phosphoprotein 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STK19 serine/threonine kinase 19
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TCF19 transcription factor 19
TGFB1 transforming growth factor, beta 1
THBS1 thrombospondin 1
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR9 toll-like receptor 9
TMEM109 transmembrane protein 109
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF17 tumor necrosis factor receptor superfamily, member 17
TNFRSF25 tumor necrosis factor receptor superfamily, member 25
TNFRSF4 tumor necrosis factor receptor superfamily, member 4
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNIP1 TNFAIP3 interacting protein 1
TRIM31 tripartite motif containing 31
TRIM9 tripartite motif containing 9
TSLP thymic stromal lymphopoietin
TTN titin
TWNK twinkle mtDNA helicase
TYMP thymidine phosphorylase
TYMS thymidylate synthetase
UNC5A unc-5 homolog A (C. elegans)
USO1 USO1 vesicle transport factor
UTRN utrophin
VARS2 valyl-tRNA synthetase 2, mitochondrial
VAV1 vav 1 guanine nucleotide exchange factor
VIP vasoactive intestinal peptide