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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.


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 ISO RGD PMID:17986328 RGD:5509842 NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728 		JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030 		JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1, CNS ISO RGD PMID:17764462 RGD:5133415 NCBI chr19:8,641,369...8,660,970
Ensembl chr19:8,641,153...8,660,951 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875 		JBrowse link
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881 		JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO RGD PMID:15661863 RGD:5509039 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15169653 PMID:23043710 RGD:8662430 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)		 RGD PMID:19561379 PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human)
DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)		 RGD PMID:19561379 PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility
onset		 ISO DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human)
DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human)		 RGD PMID:21924912 PMID:15003812 RGD:7365051, RGD:7365079 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6402089 PMID:6605118 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G Il2rb interleukin 2 receptor, beta chain ISO DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) RGD PMID:20728947 RGD:5684377 NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471 		JBrowse link
G Musk muscle, skeletal, receptor tyrosine kinase treatment
severity		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)		 CTD
RGD		 PMID:22981737 PMID:27119269 PMID:22218276 PMID:26025053 RGD:38599166, RGD:38599165 NCBI chr 4:58,285,742...58,377,848
Ensembl chr 4:58,285,962...58,374,303 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		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 chr 5:145,217,261...145,229,050
Ensembl chr 5:145,217,310...145,228,088 		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
IAGP		 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
CTD Direct Evidence: marker/mechanism
OMIM:254210		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946 		JBrowse link
G Slc18a3 solute carrier family 18 (vesicular monoamine), member 3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr14:32,184,394...32,186,807
Ensembl chr14:32,184,395...32,186,807 		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 chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		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 chr 1:152,642,293...152,651,331
Ensembl chr 1:152,642,293...152,651,348 		JBrowse link
G C3 complement component 3 IEP
ISO		 RGD PMID:17962462 PMID:147324 RGD:7401263, RGD:11040804 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G C6 complement component 6 susceptibility ISO RGD PMID:17034580 RGD:1600670 NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:11359850 RGD:8547800 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cfb complement factor B treatment ISO RGD PMID:25355917 RGD:11041161 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682 		JBrowse link
G Ctsl cathepsin L ISO mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:19232748 PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO RGD PMID:15843529 RGD:1598501 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:19232748 RGD:2311364 NCBI chr  X:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875 		JBrowse link
G Il15 interleukin 15 ISO protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Il23r interleukin 23 receptor ISO mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839 		JBrowse link
G Il2ra interleukin 2 receptor, alpha chain ISO RGD PMID:18250419 RGD:2325986 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Musk muscle, skeletal, receptor tyrosine kinase ISO RGD PMID:17081697 RGD:2317084 NCBI chr 4:58,285,742...58,377,848
Ensembl chr 4:58,285,962...58,374,303 		JBrowse link
G Myog myogenin ISO RGD PMID:1312030 RGD:9686077 NCBI chr 1:134,217,742...134,220,286
Ensembl chr 1:134,217,727...134,220,286 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16177
    disease of anatomical entity 15790
      musculoskeletal system disease 8140
        autoimmune disease of musculoskeletal system 937
          myasthenia gravis 34
            Autoimmune Limb-Girdle Myasthenia 0
            Experimental Autoimmune Myasthenia Gravis 17
            Myasthenia Gravis with Thymus Hyperplasia 0
            congenital myasthenic syndrome 6 3
            neonatal myasthenia gravis 0
Path 2
Term Annotations click to browse term
  disease 16177
    disease of anatomical entity 15790
      Immune & Inflammatory Diseases 5355
        immune system disease 4629
          primary immunodeficiency disease 4024
            autoimmune disease 2113
              autoimmune disease of the nervous system 609
                autoimmune disease of peripheral nervous system 57
                  myasthenia gravis 34
                    Autoimmune Limb-Girdle Myasthenia 0
                    Experimental Autoimmune Myasthenia Gravis 17
                    Myasthenia Gravis with Thymus Hyperplasia 0
                    congenital myasthenic syndrome 6 3
                    neonatal myasthenia gravis 0
paths to the root