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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 chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401 		JBrowse link
G CFB complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:10,978,464...10,991,650
Ensembl chr 1:10,989,207...10,990,589 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:61,430,723...61,433,777
Ensembl chr  X:61,430,725...61,433,386 		JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		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 chr19:19,830,919...19,853,534
Ensembl chr19:19,828,898...19,852,988 		JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)
DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human)		 RGD PMID:10593018 PMID:19561379 RGD:5147612 RGD:5147855 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871 		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 chr12:28,739,094...28,872,247 JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827 		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 chr28:13,539,095...13,551,772
Ensembl chr28:13,538,395...13,550,889 		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 chr 9:42,159,367...42,216,137
Ensembl chr 9:42,162,601...42,214,705 		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 chr 9:42,216,187...42,219,665
Ensembl chr 9:42,216,568...42,218,166 		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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		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 chr25:45,731,049...45,740,533
Ensembl chr25:45,731,326...45,739,508 		JBrowse link
G C3 complement C3 ISO RGD PMID:147324 PMID:17962462 RGD:11040804 RGD:7401263 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G C6 complement C6 susceptibility ISO RGD PMID:17034580 RGD:1600670 NCBI chr 4:39,912,385...40,033,338
Ensembl chr 4:39,912,155...39,983,634 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:11359850 RGD:8547800 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G CFB complement factor B treatment ISO RGD PMID:25355917 RGD:11041161 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr10:60,279,837...60,298,931 JBrowse link
G CTSL cathepsin L ISO mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr12:98,347,770...98,353,426
Ensembl chr12:98,347,800...98,353,467 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 PMID:19232748 RGD:1598501 RGD:2311364 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO RGD PMID:15843529 RGD:1598501 NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 PMID:19232748 RGD:1598501 RGD:2311364 NCBI chr  X:61,430,723...61,433,777
Ensembl chr  X:61,430,725...61,433,386 		JBrowse link
G IL15 interleukin 15 ISO protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488 		JBrowse link
G IL23R interleukin 23 receptor ISO mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO RGD PMID:18250419 RGD:2325986 NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447 		JBrowse link
G IL4R interleukin 4 receptor ISO protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase ISO RGD PMID:17081697 RGD:2317084 NCBI chr12:28,739,094...28,872,247 JBrowse link
G MYOG myogenin ISO RGD PMID:1312030 RGD:9686077 NCBI chr25:26,264,872...26,269,652
Ensembl chr25:26,266,717...26,268,867 		JBrowse link
G RAPSN receptor associated protein of the synapse ISO protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15359
    disease of anatomical entity 14990
      musculoskeletal system disease 7854
        autoimmune disease of musculoskeletal system 885
          myasthenia gravis 31
            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 15359
    disease of anatomical entity 14990
      Immune & Inflammatory Diseases 5108
        immune system disease 4447
          primary immunodeficiency disease 3862
            autoimmune disease 2021
              autoimmune disease of the nervous system 585
                autoimmune disease of peripheral nervous system 54
                  myasthenia gravis 31
                    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