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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 (Yt blood group) IMP RGD PMID:17986328 RGD:5509842 NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974 		JBrowse link
G ADRB2 adrenoceptor beta 2 IAGP DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G CFB complement factor B EXP CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 IMP RGD PMID:17764462 RGD:5133415 NCBI chr11:62,908,679...62,921,878
Ensembl chr11:62,908,679...62,921,807 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP RGD PMID:15843529 RGD:1598501 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 IEP RGD PMID:15843529 RGD:1598501 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 IAGP ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr 7:99,648,194...99,679,996
Ensembl chr 7:99,648,194...99,679,996 		JBrowse link
G ESR2 estrogen receptor 2 IEP RGD PMID:15661863 RGD:5509039 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FAS Fas cell surface death receptor IEP
EXP		 protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15169653 PMID:23043710 RGD:8662430 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G HLA-B major histocompatibility complex, class I, B EXP CTD Direct Evidence: marker/mechanism CTD PMID:6402089 PMID:6605118 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP 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 chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility
onset		 IAGP 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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) RGD PMID:20728947 RGD:5684377 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase treatment
severity		 EXP
IEP		 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 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G ZSCAN25 zinc finger and SCAN domain containing 25 IAGP ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr 7:99,616,946...99,738,035
Ensembl chr 7:99,616,946...99,632,408 		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 IAGP
ISS
EXP		 DNA:frameshift mutation, missense mutations
ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM:254210
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		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 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G C3 complement C3 ISO RGD PMID:17962462 PMID:147324 RGD:7401263, RGD:11040804 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C6 complement C6 susceptibility ISO RGD PMID:17034580 RGD:1600670 NCBI chr 5:41,142,116...41,261,469
Ensembl chr 5:41,142,116...41,261,438 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:11359850 RGD:8547800 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CFB complement factor B treatment ISO RGD PMID:25355917 RGD:11041161 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit treatment IDA RGD PMID:10606626 RGD:704386 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CTSL cathepsin L ISO mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:19232748 PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO RGD PMID:15843529 RGD:1598501 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:19232748 RGD:2311364 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987 		JBrowse link
G IL23R interleukin 23 receptor ISO mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO RGD PMID:18250419 RGD:2325986 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL4R interleukin 4 receptor ISO protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase ISO RGD PMID:17081697 RGD:2317084 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYOG myogenin ISO RGD PMID:1312030 RGD:9686077 NCBI chr 1:203,083,129...203,086,012
Ensembl chr 1:203,083,129...203,086,012 		JBrowse link
G RAPSN receptor associated protein of the synapse ISO protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97557
    disease of anatomical entity 91096
      musculoskeletal system disease 20986
        autoimmune disease of musculoskeletal system 5754
          myasthenia gravis 62
            Autoimmune Limb-Girdle Myasthenia 0
            Experimental Autoimmune Myasthenia Gravis 17
            Myasthenia Gravis with Thymus Hyperplasia 0
            congenital myasthenic syndrome 6 4
            neonatal myasthenia gravis 0
Path 2
Term Annotations click to browse term
  disease 97557
    disease of anatomical entity 91096
      Immune & Inflammatory Diseases 18533
        immune system disease 15018
          primary immunodeficiency disease 12535
            autoimmune disease 8916
              autoimmune disease of the nervous system 709
                autoimmune disease of peripheral nervous system 92
                  myasthenia gravis 62
                    Autoimmune Limb-Girdle Myasthenia 0
                    Experimental Autoimmune Myasthenia Gravis 17
                    Myasthenia Gravis with Thymus Hyperplasia 0
                    congenital myasthenic syndrome 6 4
                    neonatal myasthenia gravis 0
paths to the root