◎ Sugi Atlas

Atlas / Disease / Myasthenia gravis

Myasthenia gravis

disease
On this page

Also known as acquired myastheniaautoimmune myasthenia gravisMG

Summary

Myasthenia gravis (MONDO:0009688) is a disease (an umbrella term covering 6 Mondo subtypes) with 4 cohort genes (27 GWAS associations across 14 studies) and 194 clinical trials. Top therapeutic interventions include efgartigimod alfa, apraclonidine, and pyridostigmine.

At a glance

  • Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
  • Umbrella term: 6 Mondo subtypes
  • Cohort genes: 4
  • GWAS associations: 27
  • Phenotypes (HPO): 45
  • Clinical trials: 194

Clinical features

Epidemiology

Prevalence records

26 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

TypeClassValueGeographyValidation
Annual incidence1-9 / 1 000 0000.53WorldwideValidated
Point prevalence1-9 / 100 0007.77WorldwideValidated
Annual incidence1-9 / 100 0001.7EuropeValidated
Point prevalence1-5 / 10 00020EuropeValidated
Annual incidence1-9 / 1 000 0000.9United StatesValidated
Annual incidence1-9 / 100 0002.1SpainValidated
Annual incidence1-9 / 100 0001.11United KingdomValidated
Annual incidence1-9 / 100 0001.33SerbiaValidated
Annual incidence1-9 / 100 0001.94ItalyValidated
Annual incidence1-9 / 100 0002.5AustraliaValidated
Annual incidence1-9 / 100 0002.1Taiwan, Province of ChinaValidated
Annual incidence1-9 / 1 000 0000.74GreeceValidated
Annual incidence1-9 / 1 000 0000.65CroatiaValidated
Lifetime Prevalence1-5 / 10 00040United KingdomValidated
Point prevalence1-5 / 10 00020CanadaValidated
Point prevalence1-5 / 10 00015United KingdomValidated
Point prevalence1-5 / 10 00017United StatesValidated
Point prevalence1-5 / 10 00031.8SerbiaValidated
Point prevalence1-5 / 10 00015.7AustriaValidated
Point prevalence1-5 / 10 00018.5ItalyValidated

Signs & symptoms

Clinical features (HPO)

45 HPO clinical features (Orphanet curated; top 45 by frequency):

HPO IDTermFrequency
HP:0001324Muscle weaknessVery frequent (80-99%)
HP:0000508PtosisFrequent (30-79%)
HP:0000597OphthalmoparesisFrequent (30-79%)
HP:0000651DiplopiaFrequent (30-79%)
HP:0000777Abnormality of the thymusFrequent (30-79%)
HP:0001260DysarthriaFrequent (30-79%)
HP:0001283Bulbar palsyFrequent (30-79%)
HP:0001618DysphoniaFrequent (30-79%)
HP:0002015DysphagiaFrequent (30-79%)
HP:0002094DyspneaFrequent (30-79%)
HP:0003202Skeletal muscle atrophyFrequent (30-79%)
HP:0003551Difficulty climbing stairsFrequent (30-79%)
HP:0003690Limb muscle weaknessFrequent (30-79%)
HP:0010516Thymus hyperplasiaFrequent (30-79%)
HP:0012378FatigueFrequent (30-79%)
HP:0030006Single fiber EMG abnormalityFrequent (30-79%)
HP:0030197Fatigable weakness of skeletal musclesFrequent (30-79%)
HP:0030208Acetylcholine receptor antibody positivityFrequent (30-79%)
HP:0030210Muscle specific kinase antibody positivityFrequent (30-79%)
HP:0030319Weakness of facial musculatureFrequent (30-79%)
HP:0100614MyositisFrequent (30-79%)
HP:5000038Anti-titin antibody positivityFrequent (30-79%)
HP:5000047Anti-ryanodine receptor antibodyFrequent (30-79%)
HP:5000048Anti-Kv1.4 antibodyFrequent (30-79%)
HP:6000881Anti-DCC netrin 1 receptor antibody positivityFrequent (30-79%)
HP:0030880Raynaud phenomenonOccasional (5-29%)
HP:0100522ThymomaOccasional (5-29%)
HP:5000046Anti-Lrp4 antibody positivityOccasional (5-29%)
HP:0000365Hearing impairmentOccasional (5-29%)
HP:0000836HyperthyroidismOccasional (5-29%)
HP:0000872Hashimoto thyroiditisOccasional (5-29%)
HP:0001370Rheumatoid arthritisOccasional (5-29%)
HP:0002725Systemic lupus erythematosusOccasional (5-29%)
HP:0002878Respiratory failureOccasional (5-29%)
HP:0003076GlycosuriaOccasional (5-29%)
HP:0003401ParesthesiaOccasional (5-29%)
HP:0008207Primary adrenal insufficiencyOccasional (5-29%)
HP:0010780HyperacusisOccasional (5-29%)
HP:0012473Tongue atrophyOccasional (5-29%)
HP:0000709PsychosisVery rare (<1-4%)
HP:0001063AcrocyanosisVery rare (<1-4%)
HP:0001250SeizureVery rare (<1-4%)
HP:0001878Hemolytic anemiaVery rare (<1-4%)
HP:0012115HepatitisVery rare (<1-4%)
HP:0012410Pure red cell aplasiaVery rare (<1-4%)

Identifiers

Disease identifiers

FieldValue
Canonical namemyasthenia gravis
Mondo IDMONDO:0009688
EFOEFO:0004991
MeSHD009157
OMIM254200
Orphanet589
DOIDDOID:437
ICD-10-CMG70.0
ICD-111270100227
NCITC60989
SNOMED CT91637004
UMLSC0026896
MedGen7764
GARD0007122
MedDRA10028417
NORD1478
Is cancer (heuristic)no

Also known as: acquired myasthenia · autoimmune myasthenia gravis · MG · myasthenia gravis

Data availability: 27 GWAS associations (14 studies) · 54 cell lines.

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › autoimmune disorder of the nervous system › autoimmune disorder of peripheral nervous system › myasthenia gravis

Related subtypes (3): autoimmune neuropathy, Guillain-Barre syndrome, autoimmune optic neuritis

Subtypes (6): neonatal myasthenia gravis, myasthenia, limb-girdle, autoimmune, myasthenia gravis with thymus hyperplasia, adult-onset myasthenia gravis, juvenile myasthenia gravis, transient neonatal myasthenia gravis

Genetics & variants

GWAS landscape

27 GWAS associations across 14 studies. Top hits map to 12 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs28539863e-91RNU6-283P - FGFR3P1T0.39
rs24766013e-43AP4B1-AS1, PTPN22A1.39
rs30939584e-42LINC01149G4.49
rs12647063e-25RNF39 - TRIM31-AS1C1.35
rs72392612e-19TNFRSF11AA1.15
rs768150886e-16HLA-DRB1 - HLA-DQA1C0.42
rs45740257e-14TNFRSF11AC1.33
rs129465108e-13GRB7 - IKZF3T1.12
rs44097851e-11LNCRNA-IUR - FAM76BC1.14
rs64335013e-11CHRNA1G1.16
rs2317709e-11CTLA4T1.39
rs47665782e-10ATXN2T1.1
rs92662777e-10HLA-BA1.29
rs2317797e-10CTLA4T1.11
rs352743881e-09CHRNA1A1.57
rs2159184e-09TBX18 - RPL31P32A0.91
rs42630371e-08TNFRSF11AG1.26
rs23014362e-08CEP43T1.09
rs75221383e-08MAGI3A0.92
rs68612273e-08TNIP1G1.12
rs730077674e-08RPL15P15 - LINC02151G1.85
rs107884554e-08RNU6-325P - GRID1-AS1?
rs92709866e-08HLA-DRB1 - HLA-DQA1A1.43
rs22455696e-08SFMBT2G1.27

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90432156Braun A20245,708432,028Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.
GCST90093061Chia R20221,87336,370Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
GCST90432157Braun A20241,39122,407Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.
GCST90481893Verma A20241,079450,096Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST002838Renton AE20159721,977A genome-wide association study of myasthenia gravis.
GCST90093465Chia R20225952,718Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
GCST90651677Liu TY2025325227,658Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90014446Glanville KP2021234324,074Investigating Pleiotropy Between Depression and Autoimmune Diseases Using the UK Biobank.
GCST90018876Sakaue S2021197354,945A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90435955Zhou W2018192406,852Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR0
Tier 3: regulatory1
Tier 4: intronic/intergenic22

MAF distribution

BucketVariants
common (>=0.05)23
low_freq (0.01-0.05)1
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant17
intergenic_variant3
non_coding_transcript_exon_variant2
missense_variant1
regulatory_region_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs2853986631371067T>C0.093intron_variantRNU6-283P - FGFR3P13e-91Tier 4: intronic/intergenic
rs24766011113834946A>G,T0.13missense_variantAP4B1-AS1, PTPN223e-43Tier 1: coding
rs3093958631442744A>G0.094intron_variantLINC011494e-42Tier 4: intronic/intergenic
rs1264706630095875G>C0.072regulatory_region_variantRNF39 - TRIM31-AS13e-25Tier 3: regulatory
rs72392611862337813A>C,T0.436intron_variantTNFRSF11A2e-19Tier 4: intronic/intergenic
rs76815088632620936T>A,C0.061intron_variantHLA-DRB1 - HLA-DQA16e-16Tier 4: intronic/intergenic
rs45740251862342581C>A,G,T0.461intron_variantTNFRSF11A7e-14Tier 4: intronic/intergenic
rs129465101739756124C>T0.493non_coding_transcript_exon_variantGRB7 - IKZF38e-13Tier 4: intronic/intergenic
rs44097851195578258T>C0.169intron_variantLNCRNA-IUR - FAM76B1e-11Tier 4: intronic/intergenic
rs64335012174751939G>A,C,T0.112intron_variantCHRNA13e-11Tier 4: intronic/intergenic
rs2317702203864430C>T0.38intron_variantCTLA49e-11Tier 4: intronic/intergenic
rs476657812111466567T>A0.406intron_variantATXN22e-10Tier 4: intronic/intergenic
rs9266277631358836A>G0.347intron_variantHLA-B7e-10Tier 4: intronic/intergenic
rs2317792203869764C>T0.451intron_variantCTLA47e-10Tier 4: intronic/intergenic
rs352743882174764492G>A,T0.036intron_variantCHRNA11e-09Tier 4: intronic/intergenic
rs215918684804065A>C,G,T0.374intergenic_variantTBX18 - RPL31P324e-09Tier 4: intronic/intergenic
rs42630371862349000G>A0.38intron_variantTNFRSF11A1e-08Tier 4: intronic/intergenic
rs23014366167024500C>A,G,T0.477intron_variantCEP432e-08Tier 4: intronic/intergenic
rs75221381113675083G>A0.47intron_variantMAGI33e-08Tier 4: intronic/intergenic
rs68612275151067567T>G0.128intron_variantTNIP13e-08Tier 4: intronic/intergenic
rs7300776711116158033T>G0.087non_coding_transcript_exon_variantRPL15P15 - LINC021514e-08Tier 4: intronic/intergenic
rs107884551085542264C>G,T0.05intergenic_variantRNU6-325P - GRID1-AS14e-08Tier 4: intronic/intergenic
rs9270986632606283A>C,T0.15intergenic_variantHLA-DRB1 - HLA-DQA16e-08Tier 4: intronic/intergenic
rs2245569107410781A>C,G,T0.213intron_variantSFMBT26e-08Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 27 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 3

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

GeneHGNCEvidence routes
TNFRSF11ATNFRSF11AGWAS, Orphanet
CTLA4CTLA4GWAS, Orphanet
HLA-DQA1HLA-DQA1GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
TNFRSF11AOrphanet:1782Dysosteosclerosis
TNFRSF11AOrphanet:178389Osteopetrosis-hypogammaglobulinemia syndrome
TNFRSF11AOrphanet:2801Juvenile Paget disease
TNFRSF11AOrphanet:391490Adult-onset myasthenia gravis
TNFRSF11AOrphanet:85195Familial expansile osteolysis
CTLA4Orphanet:2584Classic mycosis fungoides
CTLA4Orphanet:3162Sézary syndrome
CTLA4Orphanet:391490Adult-onset myasthenia gravis
CTLA4Orphanet:436159Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
CTLA4Orphanet:536Systemic lupus erythematosus
CTLA4Orphanet:900Granulomatosis with polyangiitis
HLA-DQA1Orphanet:391490Adult-onset myasthenia gravis
HLA-DQA1Orphanet:930Idiopathic achalasia
HLA-DRB1Orphanet:2073Narcolepsy type 1
HLA-DRB1Orphanet:220393Diffuse cutaneous systemic sclerosis
HLA-DRB1Orphanet:220402Limited cutaneous systemic sclerosis
HLA-DRB1Orphanet:220407Limited systemic sclerosis
HLA-DRB1Orphanet:3437Vogt-Koyanagi-Harada disease
HLA-DRB1Orphanet:397Giant cell arteritis
HLA-DRB1Orphanet:477738Pediatric multiple sclerosis
HLA-DRB1Orphanet:536Systemic lupus erythematosus
HLA-DRB1Orphanet:545Follicular lymphoma
HLA-DRB1Orphanet:703Bullous pemphigoid
HLA-DRB1Orphanet:747Autoimmune pulmonary alveolar proteinosis
HLA-DRB1Orphanet:797Sarcoidosis
HLA-DRB1Orphanet:83465Narcolepsy type 2
HLA-DRB1Orphanet:85414Systemic-onset juvenile idiopathic arthritis

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only4

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
TNFRSF11AHGNC:11908ENSG00000141655Q9Y6Q6Tumor necrosis factor receptor superfamily member 11Agwas
CTLA4HGNC:2505ENSG00000163599P16410Cytotoxic T-lymphocyte protein 4gwas
HLA-DQA1HGNC:4942ENSG00000196735P01909HLA class II histocompatibility antigen, DQ alpha 1 chaingwas
HLA-DRB1HGNC:4948ENSG00000196126P01911HLA class II histocompatibility antigen, DRB1 beta chaingwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
TNFRSF11ATumor necrosis factor receptor superfamily member 11AReceptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis.
CTLA4Cytotoxic T-lymphocyte protein 4Inhibitory receptor acting as a major negative regulator of T-cell responses.
HLA-DQA1HLA class II histocompatibility antigen, DQ alpha 1 chainBinds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells.
HLA-DRB1HLA class II histocompatibility antigen, DRB1 beta chainA beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule.

Protein-family classification

Druggable: 3 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.75

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Antibody/Immunoglobulin321.9×3e-04
Other/Unknown10.5×0.962

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
TNFRSF11AOther/UnknownnoTNFR/NGFR_Cys_rich_reg, TNFR_11, TNFR_11A
CTLA4Antibody/ImmunoglobulinyesIg_sub, CTLA4, Ig_V-set
HLA-DQA1Antibody/ImmunoglobulinyesMHC_II_a_N, Ig/MHC_CS, Ig_C1-set
HLA-DRB1Antibody/ImmunoglobulinyesMHC_II_b_N, Ig/MHC_CS, Ig_C1-set

Expression context

Cohort genes with no expression data: 0.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)4
unknown0

Top tissues across cohort

TissueCohort genes
vermiform appendix2
jejunal mucosa1
mucosa of sigmoid colon1
parotid gland1
buccal mucosa cell1
lymph node1
gall bladder1
monocyte1
rectum1
granulocyte1
right lung1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
TNFRSF11A221broadmarkerparotid gland, mucosa of sigmoid colon, jejunal mucosa
CTLA4164tissue_specificmarkerlymph node, vermiform appendix, buccal mucosa cell
HLA-DQA1244broadmarkergall bladder, rectum, monocyte
HLA-DRB1131tissue_specificmarkervermiform appendix, granulocyte, right lung

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CTLA43,863
HLA-DRB13,448
TNFRSF11A1,186
HLA-DQA1196

Structural data

PDB: 4 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
HLA-DRB1P01911108
HLA-DQA1P0190928
CTLA4P1641022
TNFRSF11AQ9Y6Q61

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. Enrichment computed across 4 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Translocation of ZAP-70 to Immunological synapse2317.2×8e-05HLA-DQA1, HLA-DRB1
Phosphorylation of CD3 and TCR zeta chains2271.9×8e-05HLA-DQA1, HLA-DRB1
Co-inhibition by PD-12259.6×8e-05HLA-DQA1, HLA-DRB1
Generation of second messenger molecules2173.0×1e-04HLA-DQA1, HLA-DRB1
Downstream TCR signaling264.2×7e-04HLA-DQA1, HLA-DRB1
Interferon gamma signaling262.8×7e-04HLA-DQA1, HLA-DRB1
MHC class II antigen presentation244.6×0.001HLA-DQA1, HLA-DRB1
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)1285.5×0.005CTLA4
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway1167.9×0.008TNFRSF11A
Co-inhibition by CTLA41129.8×0.009CTLA4
Co-stimulation by CD28195.2×0.011CTLA4
TNFR2 non-canonical NF-kB pathway145.3×0.022TNFRSF11A

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
peptide antigen assembly with MHC class II protein complex2526.6×2e-04HLA-DQA1, HLA-DRB1
adaptive immune response363.2×2e-04TNFRSF11A, CTLA4, HLA-DQA1
antigen processing and presentation of exogenous peptide antigen via MHC class II2271.8×4e-04HLA-DQA1, HLA-DRB1
positive regulation of immune response2240.7×4e-04HLA-DQA1, HLA-DRB1
positive regulation of T cell activation2221.7×4e-04HLA-DQA1, HLA-DRB1
immune response335.3×4e-04CTLA4, HLA-DQA1, HLA-DRB1
negative regulation of T cell proliferation2165.2×5e-04CTLA4, HLA-DRB1
regulation of interleukin-4 production14213.0×0.002HLA-DRB1
T cell receptor signaling pathway275.9×0.002CTLA4, HLA-DRB1
antigen processing and presentation of endogenous peptide antigen via MHC class II12106.5×0.002HLA-DRB1
regulation of interleukin-10 production12106.5×0.002HLA-DRB1
positive regulation of fever generation by positive regulation of prostaglandin secretion12106.5×0.002TNFRSF11A
myeloid dendritic cell antigen processing and presentation11404.3×0.003HLA-DRB1
circadian temperature homeostasis11404.3×0.003TNFRSF11A
multinuclear osteoclast differentiation11404.3×0.003TNFRSF11A
regulation of T-helper cell differentiation11053.2×0.003HLA-DRB1
positive regulation of CD4-positive, alpha-beta T cell activation11053.2×0.003HLA-DRB1
positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation1842.6×0.004HLA-DRB1
negative regulation of regulatory T cell differentiation1842.6×0.004CTLA4
positive regulation of T cell mediated immune response to tumor cell1601.9×0.005HLA-DRB1
cellular response to zinc ion starvation1601.9×0.005TNFRSF11A
T-helper 1 type immune response1468.1×0.006HLA-DRB1
positive regulation of memory T cell differentiation1468.1×0.006HLA-DRB1
positive regulation of monocyte differentiation1383.0×0.007HLA-DRB1
detection of bacterium1351.1×0.007HLA-DRB1
positive regulation of bone resorption1247.8×0.009TNFRSF11A
mammary gland alveolus development1247.8×0.009TNFRSF11A
inflammatory response to antigenic stimulus1234.1×0.009HLA-DRB1
negative regulation of B cell proliferation1234.1×0.009CTLA4
lymph node development1200.6×0.010TNFRSF11A

Therapeutics

Drugs indicated for this disease

4 approved, 20 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
AmifampridineApproved (phase 4)
Efgartigimod AlfaApproved (phase 4)
RozanolixizumabApproved (phase 4)
Zilucoplan SodiumApproved (phase 4)
AzathioprinePhase 3 (in late-stage trials)
BatoclimabPhase 3 (in late-stage trials)
CemdisiranPhase 3 (in late-stage trials)
EculizumabPhase 3 (in late-stage trials)
GefurulimabPhase 3 (in late-stage trials)
Human Immunoglobulin GPhase 3 (in late-stage trials)
InebilizumabPhase 3 (in late-stage trials)
LeflunomidePhase 3 (in late-stage trials)
Mycophenolate MofetilPhase 3 (in late-stage trials)
NipocalimabPhase 3 (in late-stage trials)
PozelimabPhase 3 (in late-stage trials)
PrednisonePhase 3 (in late-stage trials)
PyridostigminePhase 3 (in late-stage trials)
RavulizumabPhase 3 (in late-stage trials)
RituximabPhase 3 (in late-stage trials)
SatralizumabPhase 3 (in late-stage trials)
Sodium ChloridePhase 3 (in late-stage trials)
Tacrolimus AnhydrousPhase 3 (in late-stage trials)
TelitaciceptPhase 3 (in late-stage trials)
ZilucoplanPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Apraclonidine, Carmustine, Cytarabine, Etoposide, Melphalan, Methotrexate, Tirasemtiv, Tocilizumab.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 4

Druggability breadth: 3 of 4 evidence-associated genes (75%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
TNFRSF11A00
CTLA400
HLA-DQA100
HLA-DRB100

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
HLA-DRB117Binding:17
HLA-DQA12Binding:2
CTLA41Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug3CTLA4, HLA-DQA1, HLA-DRB1
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug1TNFRSF11A

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
TNFRSF11A0—
CTLA41—
HLA-DQA12—
HLA-DRB117—

Clinical trials & evidence

Clinical trials

Clinical trials: 194.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified114
PHASE222
PHASE318
PHASE116
EARLY_PHASE110
PHASE1/PHASE26
PHASE44
PHASE2/PHASE34

Top trials by phase / activity

NCTPhaseStatusTitle
NCT06723548PHASE4NOT_YET_RECRUITINGTelitacicept and Low-dose Steroids in Refractory Myasthenia Gravis
NCT07246564PHASE4RECRUITINGPhase 4 Study Evaluating Efficacy and Safety of Rozanolixizumab in Adult Chinese Participants With Generalized Myasthenia Gravis
NCT00987116PHASE4COMPLETEDStudy Comparing Two Tapering Strategies of Prednisone in Myasthenia Gravis
NCT03510546PHASE4UNKNOWNEffect of Pyridostigmine (Mestinon) on Muscle Strength in Myasthenia Gravis
NCT04524273PHASE3ACTIVE_NOT_RECRUITINGMyasthenia Gravis Inebilizumab Trial
NCT04951622PHASE3RECRUITINGA Study of Nipocalimab Administered to Adults With Generalized Myasthenia Gravis
NCT05265273PHASE2/PHASE3RECRUITINGA Study of Nipocalimab in Children Aged 2 to Less Than 18 Years With Generalized Myasthenia Gravis
NCT06193889PHASE2/PHASE3RECRUITINGKYSA-6: A Study of Anti-CD19 Chimeric Antigen Receptor T-Cell Therapy, in Patients With Generalized Myasthenia Gravis
NCT06298552PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Study to Evaluate the Efficacy and Safety of Efgartigimod IV in Patients With Acetylcholine Receptor Binding Antibody Seronegative Generalized Myasthenia Gravis
NCT06836973PHASE2/PHASE3NOT_YET_RECRUITINGBlinatumomab for Treatment of Refractory Myasthenia Gravis
NCT07217587PHASE3RECRUITINGComparative Efficacy of Nipocalimab and Efgartigimod in Participants With Generalized Myasthenia Gravis
NCT00285350PHASE3COMPLETEDMycophenolate Mofetil in Myasthenia Gravis
NCT00294658PHASE3COMPLETEDThymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy
NCT00306033PHASE3COMPLETEDIntravenous Immune Globulin Treatment Compared to Placebo in Patients With Myasthenia Gravis
NCT00309088PHASE3COMPLETEDFK506 Phase 3 Study: a Study for Steroid Non-resistant Myasthenia Gravis (MG) Patients
NCT00309101PHASE3COMPLETEDAn Open Study for Steroid Resistant, Non-Thymectomized MG Patients
NCT01325571PHASE3COMPLETEDA Study to Compare the Efficacy and Safety of Tacrolimus Capsules in Patient With Myasthenia Gravis
NCT01727193PHASE3COMPLETEDThe Efficacy and Safety of Leflunomide or Azathioprine Therapy in Myasthenia Gravis Patients After Expand Thymectomy
NCT02774239PHASE3COMPLETEDA Pilot Trial To Assess The Feasibility And Efficacy Of SCIG In Patients With MG Exacerbation (SCIG-MG)
NCT03759366PHASE3COMPLETEDA Phase 3 Open-Label Study of Eculizumab in Pediatric Participants With Refractory Generalized Myasthenia Gravis (gMG)
NCT03914638PHASE2/PHASE3UNKNOWNBeta-agonist Efficacy and Tolerability as Adjuvant Therapy in Myasthenia Gravis
NCT05039190PHASE3COMPLETEDEvaluate the Efficacy and Safety of HBM9161(HL161)Subcutaneous Injection in Patients With Generalized MG Patients
NCT05132569PHASE3TERMINATEDEfficacy and Safety of Tolebrutinib (SAR442168) Tablets in Adult Participants With Generalized Myasthenia Gravis
NCT05332210PHASE3COMPLETEDEvaluate the Safety of HBM9161 (HL161) Subcutaneous Injection in Patients With Generalized Myasthenia Gravis
NCT05332587PHASE3UNKNOWNEfficacy and Safety of Low-dose Rituximab in the Treatment of Refractory Myasthenia Gravis
NCT05919407PHASE3UNKNOWNPyridostigmine and Amifampridine for Myasthenia Gravis
NCT00716066PHASE2ACTIVE_NOT_RECRUITINGAutologous Stem Cell Transplant for Neurologic Autoimmune Diseases
NCT06106672PHASE1/PHASE2RECRUITINGEvaluate the Safety, Tolerability, Pharmacodynamics and Efficacy of CNP-106 in Subjects With Myasthenia Gravis
NCT06221501PHASE2NOT_YET_RECRUITINGPerioperative Efgartigimod for Thymoma and Myasthenia Gravis
NCT06414954PHASE2RECRUITINGSafety and Efficacy of 3 Dose Levels of NMD670 in Adult Patients With Myasthenia Gravis
NCT07022197PHASE1/PHASE2RECRUITINGSafety and Efficacy of BAFF-R CART for Refractory Neuroimmune Diseases
NCT07250750PHASE1/PHASE2RECRUITINGA Phase 1b/2 Study of IM-101 in Adult Participants With Generalized Myasthenia Gravis and Ocular Myasthenia Gravis
NCT07284420PHASE2RECRUITINGADAPT Forward 1 - ISA1 - a Study to Evaluate Empasiprubart IV as add-on Therapy to Efgartigimod IV in Participants With AChR-Ab Seropositive Generalized Myasthenia Gravis With a Partial Clinical Response to Efgartigimod
NCT07372807PHASE1/PHASE2NOT_YET_RECRUITINGRipertamab for the Treatment of Myasthenia Gravis
NCT00619671PHASE1/PHASE2COMPLETEDA Pilot Trial of Rituxan in Refractory Myasthenia Gravis
NCT00727194PHASE2TERMINATEDSafety and Efficacy Study of Eculizumab in Patients With Refractory Generalized Myasthenia Gravis
NCT00774462PHASE2COMPLETEDRituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis
NCT00814138PHASE2COMPLETEDEfficacy of Methotrexate in Myasthenia Gravis
NCT01268280PHASE2TERMINATEDPharmacodynamic Study of CK-2017357 in Patients With Generalized Myasthenia Gravis
NCT02100969PHASE2COMPLETEDOpen Label Study of Subcutaneous Immunoglobulin (SCIg) in Myasthenia Gravis

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
EFGARTIGIMOD ALFA46
APRACLONIDINE43
PYRIDOSTIGMINE43
ECULIZUMAB42
ROZANOLIXIZUMAB42
AZATHIOPRINE41
BLINATUMOMAB41
FIBRINOGEN I 12541
INEBILIZUMAB41
LEFLUNOMIDE41
MYCOPHENOLATE MOFETIL41
MYCOPHENOLIC ACID41
TALQUETAMAB41
ZILUCOPLAN SODIUM41
NIPOCALIMAB33
TELITACICEPT32
BATOCLIMAB31
RIPERTAMAB31
TIRASEMTIV31
MEZAGITAMAB21
OXALOACETATE21
VEMIRCOPAN21
ZOLACABTAGENE AUTOLEUCEL11

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmicd11intactinterpromeddramedgenmeshmimmondomondochildmondoparentncitnordorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot