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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:myasthenia gravis
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Accession:DOID:437 term browser browse the term
Definition:An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. (DO)
Synonyms:exact_synonym: generalized myasthenia gravis
 narrow_synonym: REFRACTORY MYASTHENIA GRAVIS;   late-onset myasthenia gravis;   ocular myasthenia gravis
 primary_id: MESH:D009157
 alt_id: MIM:254200
 xref: EFO:0004991;   EFO:1001490;   GARD:7122;   ICD10CM:G70.0;   ICD10CM:G70.00;   ICD9CM:358.0;   ICD9CM:358.00;   NCI:C60989
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
myasthenia gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase (Cartwright blood group) ISO RGD PMID:17986328 RGD:5509842 NCBI chrNW_004955573:79,606...85,799
Ensembl chrNW_004955573:80,298...85,799 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980 		JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464 		JBrowse link
G Chrm1 cholinergic receptor muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chrNW_004955599:349,744...356,714
Ensembl chrNW_004955599:349,744...356,714 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood, T lymphocyte (human)		 CTD
RGD		 PMID:15169653 PMID:23043710 RGD:8662430 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) RGD PMID:20728947 RGD:5684377 NCBI chrNW_004955413:23,623,567...23,640,245
Ensembl chrNW_004955413:23,623,154...23,640,259 		JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042 		JBrowse link
G Musk muscle associated receptor tyrosine kinase severity
treatment		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)		 CTD
RGD		 PMID:22218276 PMID:22981737 PMID:26025053 PMID:27119269 RGD:38599165 RGD:38599166 NCBI chrNW_004955419:16,387,770...16,484,266
Ensembl chrNW_004955419:16,387,770...16,484,266 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chrNW_004955435:17,082,762...17,139,067 JBrowse link
G Zscan25 zinc finger and SCAN domain containing 25 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chrNW_004955460:15,271,577...15,280,712
Ensembl chrNW_004955460:15,271,122...15,282,042 		JBrowse link
congenital myasthenic syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase susceptibility ISO ClinVar Annotator: match by term: Familial infantile myasthenia
DNA:frameshift mutation, missense mutations		 OMIM
ClinVar
RGD		 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chrNW_004955556:650,290...695,135
Ensembl chrNW_004955556:650,279...693,276 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chrNW_004955556:696,779...698,869
Ensembl chrNW_004955556:696,974...698,566 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
Experimental Autoimmune Myasthenia Gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex subunit 5 treatment ISO RGD PMID:17997938 RGD:11049469 NCBI chrNW_004955406:22,409,239...22,418,950
Ensembl chrNW_004955406:22,409,239...22,418,945 		JBrowse link
G C3 complement C3 ISO RGD PMID:147324 PMID:17962462 RGD:11040804 RGD:7401263 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11359850 RGD:8547800 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Cfb complement factor B treatment ISO RGD PMID:25355917 RGD:11041161 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 PMID:19232748 RGD:1598501 RGD:2311364 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO RGD PMID:15843529 RGD:1598501 NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 PMID:19232748 RGD:1598501 RGD:2311364 NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596 		JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469 		JBrowse link
G Il23r interleukin 23 receptor ISO mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:18250419 RGD:2325986 NCBI chrNW_004955421:22,642,004...22,694,729
Ensembl chrNW_004955421:22,641,511...22,694,913 		JBrowse link
G Il4r interleukin 4 receptor ISO protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO RGD PMID:17081697 RGD:2317084 NCBI chrNW_004955419:16,387,770...16,484,266
Ensembl chrNW_004955419:16,387,770...16,484,266 		JBrowse link
G Myog myogenin ISO RGD PMID:1312030 RGD:9686077 NCBI chrNW_004955406:39,099,044...39,102,479
Ensembl chrNW_004955406:39,099,716...39,102,501 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14291
    disease of anatomical entity 13955
      musculoskeletal system disease 7428
        autoimmune disease of musculoskeletal system 833
          myasthenia gravis 28
            Autoimmune Limb-Girdle Myasthenia 0
            Experimental Autoimmune Myasthenia Gravis 15
            Myasthenia Gravis with Thymus Hyperplasia 0
            congenital myasthenic syndrome 6 3
            neonatal myasthenia gravis 0
Path 2
Term Annotations click to browse term
  disease 14291
    disease of anatomical entity 13955
      Immune & Inflammatory Diseases 4803
        immune system disease 4181
          primary immunodeficiency disease 3628
            autoimmune disease 1892
              autoimmune disease of the nervous system 551
                autoimmune disease of peripheral nervous system 50
                  myasthenia gravis 28
                    Autoimmune Limb-Girdle Myasthenia 0
                    Experimental Autoimmune Myasthenia Gravis 15
                    Myasthenia Gravis with Thymus Hyperplasia 0
                    congenital myasthenic syndrome 6 3
                    neonatal myasthenia gravis 0
paths to the root