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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_004624740:16,275,108...16,280,639
Ensembl chrNW_004624740:16,275,117...16,281,793 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chrNW_004624774:8,211,723...8,215,962
Ensembl chrNW_004624774:8,211,984...8,213,240 		JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Chrm1 cholinergic receptor muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chrNW_004624926:1,326,851...1,335,477
Ensembl chrNW_004624926:1,326,866...1,330,805 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chrNW_004624903:1,958,323...1,961,789
Ensembl chrNW_004624903:1,958,698...1,961,763 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15169653 PMID:23043710 RGD:8662430 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		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_004624752:10,662,053...10,682,891
Ensembl chrNW_004624752:10,672,432...10,683,045 		JBrowse link
G LOC101697345 HLA class II histocompatibility antigen, DP beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)
DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human)		 RGD PMID:10593018 PMID:19561379 RGD:5147612 RGD:5147855 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G Musk muscle associated receptor tyrosine kinase severity
treatment		 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22218276 PMID:22981737 PMID:26025053 PMID:27119269 RGD:38599165 RGD:38599166 NCBI chrNW_004624758:733,380...829,192
Ensembl chrNW_004624758:733,919...829,075 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990 		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_004624740:33,053,712...33,070,751
Ensembl chrNW_004624740:33,053,773...33,073,674 		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_004624928:357,812...401,668
Ensembl chrNW_004624928:360,704...399,714 		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_004624928:403,114...405,560
Ensembl chrNW_004624928:403,503...405,095 		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_004624731:5,350,912...5,359,286 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_004624814:10,063,157...10,073,143
Ensembl chrNW_004624814:10,063,092...10,073,313 		JBrowse link
G C3 complement C3 ISO RGD PMID:147324 PMID:17962462 RGD:11040804 RGD:7401263 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G C6 complement C6 susceptibility ISO RGD PMID:17034580 RGD:1600670 NCBI chrNW_004624759:13,775,339...13,842,415
Ensembl chrNW_004624759:13,775,358...13,842,648 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11359850 RGD:8547800 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		JBrowse link
G Cfb complement factor B treatment ISO RGD PMID:25355917 RGD:11041161 NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chrNW_004624787:11,933,927...11,950,017
Ensembl chrNW_004624787:11,934,433...11,950,005 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 PMID:19232748 RGD:1598501 RGD:2311364 NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO RGD PMID:15843529 RGD:1598501 NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 PMID:19232748 RGD:1598501 RGD:2311364 NCBI chrNW_004624903:1,958,323...1,961,789
Ensembl chrNW_004624903:1,958,698...1,961,763 		JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941 		JBrowse link
G Il23r interleukin 23 receptor ISO mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:18250419 RGD:2325986 NCBI chrNW_004624775:927,337...991,062
Ensembl chrNW_004624775:924,648...942,354 		JBrowse link
G Il4r interleukin 4 receptor ISO protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chrNW_004624782:11,981,781...12,008,362 JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO RGD PMID:17081697 RGD:2317084 NCBI chrNW_004624758:733,380...829,192
Ensembl chrNW_004624758:733,919...829,075 		JBrowse link
G Myog myogenin ISO RGD PMID:1312030 RGD:9686077 NCBI chrNW_004624807:7,742,926...7,753,149
Ensembl chrNW_004624807:7,749,852...7,753,336 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chrNW_004624767:1,350,820...1,358,107
Ensembl chrNW_004624767:1,351,370...1,358,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      musculoskeletal system disease 7396
        autoimmune disease of musculoskeletal system 841
          myasthenia gravis 30
            Autoimmune Limb-Girdle Myasthenia 0
            Experimental Autoimmune Myasthenia Gravis 16
            Myasthenia Gravis with Thymus Hyperplasia 0
            congenital myasthenic syndrome 6 3
            neonatal myasthenia gravis 0
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      Immune & Inflammatory Diseases 4766
        immune system disease 4149
          primary immunodeficiency disease 3594
            autoimmune disease 1887
              autoimmune disease of the nervous system 551
                autoimmune disease of peripheral nervous system 50
                  myasthenia gravis 30
                    Autoimmune Limb-Girdle Myasthenia 0
                    Experimental Autoimmune Myasthenia Gravis 16
                    Myasthenia Gravis with Thymus Hyperplasia 0
                    congenital myasthenic syndrome 6 3
                    neonatal myasthenia gravis 0
paths to the root