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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:myositis
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Accession:DOID:633 term browser browse the term
Definition:A myopathy characterized by muscle inflammation. (DO)
Synonyms:exact_synonym: Focal Myositis;   Idiopathic Inflammatory Myopathies;   Idiopathic Inflammatory Myopathy;   Idiopathic Inflammatory Myositis;   Infectious Myositides;   Infectious Myositis;   Inflammatory Muscle Disease;   Inflammatory Muscle Diseases;   Inflammatory Myopathies;   Inflammatory Myopathy;   Myositides;   Proliferative Myositides;   focal myositides;   inflammatory disorder of muscle;   proliferative myositis
 primary_id: MESH:D009220
 xref: EFO:0000783;   ICD10CM:M60;   ICD10CM:M60.9;   NCI:C27578
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
myositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B ISO ClinVar Annotator: match by term: Myositis ClinVar PMID:25741868 NCBI chr 2:12,268,692...12,279,386
Ensembl chr 2:12,268,695...12,279,559 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19493236 RGD:5508428 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:16968394 RGD:8655903 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:skeletal muscle (human)		 CTD
RGD		 PMID:10886238 PMID:18251582 RGD:8549795
G SRSF1 serine and arginine rich splicing factor 1 ISO protein:decreased expression:muscle (human) RGD PMID:16574722 RGD:11038773 NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23425968 NCBI chr16:19,455,294...19,486,735
Ensembl chr16:19,455,092...19,486,732 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:muscle: RGD PMID:10399751 RGD:7401187 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110258578 interleukin-1 beta-like ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:18550579 PMID:25741868
congenital myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,752,436...54,974,535
Ensembl chr12:54,752,507...54,973,515 		JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,680,047...54,747,338
Ensembl chr12:54,680,057...54,738,102 		JBrowse link
G MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340 		JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,051,990...55,103,415
Ensembl chr12:55,046,888...55,103,400 		JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia OMIM
ClinVar		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr12:55,252,974...55,278,820 JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		JBrowse link
G MYH4 myosin, heavy chain 4, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,190,545...55,216,294
Ensembl chr12:55,190,433...55,212,813 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,740,642...54,752,291
Ensembl chr12:54,740,644...54,750,716 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr16:24,521,318...24,575,939
Ensembl chr16:24,520,634...24,590,338 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CD36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:17899683 RGD:5685006 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CFB complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G LTA lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
Familial Idiopathic Inflammatory Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility ISO DNA:snp:cds:p.R620W (rs2476601) (human) RGD PMID:18821667 RGD:11535001 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
fibromyalgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO protein:decreased activity:mononuclear cell: RGD PMID:22532869 RGD:9479066 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:decreased expression:plasma RGD PMID:19924498 RGD:14995946 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G COMT catechol-O-methyltransferase severity ISO DNA:polymorphism:cds:p.V158M(human) RGD PMID:24762091 RGD:13450944 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO protein:increased expression:serum (human) RGD PMID:10341365 RGD:8549787
GNE myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENG endoglin ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:15266205 PMID:17786384 PMID:22022569 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing OMIM
ClinVar		 PMID:2402797 PMID:2473753 PMID:2808337 PMID:5182749 PMID:9536098 More... NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SQSTM1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA11 annexin A11 ISO ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr14:81,835,205...81,879,565
Ensembl chr14:81,835,194...81,879,372 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2		 OMIM
ClinVar		 PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417 		JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGF epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:23455423 RGD:10395280 NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ClinVar PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
inclusion body myositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CD36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CLU clusterin ISO RGD PMID:15912881 RGD:1626306 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764 		JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO protein:increased expression:muscle: RGD PMID:18191026 RGD:10395231 NCBI chr 2:150,612,845...150,662,431
Ensembl chr 2:150,612,077...150,662,284 		JBrowse link
G DAG1 dystroglycan 1 ISO RGD PMID:14972325 RGD:11537409 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G FAS Fas cell surface death receptor ISO mRNA,protein:increased expression:muscle RGD PMID:9450780 RGD:12903959 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Inclusion body myositis ClinVar PMID:25741868 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767 		JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO IBM3, OMIM:605637, DNA:point mutation:exon:E706K RGD PMID:11114175 RGD:1600532 NCBI chr12:55,252,974...55,278,820 JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11837748 RGD:1581257 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G VCP valosin containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		JBrowse link
myositis ossificans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:8678932 RGD:734648 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
Nakajo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Nodular erythema digital changes ClinVar PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More... NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,465...25,062,245 		JBrowse link
nodular nonsuppurative panniculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3259592 PMID:6982619 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645 		JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTULIN OTU deubiquitinase with linear linkage specificity susceptibility ISO ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA ClinVar
OMIM		 PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More... NCBI chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198 		JBrowse link
polymyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470 		JBrowse link
G ELN elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MMP9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7582694) (human) RGD PMID:24632671 RGD:8661720 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAVCR2 hepatitis A virus cellular receptor 2 ISO ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma OMIM
ClinVar		 PMID:25741868 PMID:30374066 PMID:30792187 NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538 		JBrowse link
tendinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN2 cellular communication network factor 2 ISO protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat) RGD PMID:19743505 RGD:2314473 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691 		JBrowse link
G FMOD fibromodulin ISO RGD PMID:19955224 RGD:2315073 NCBI chr 9:64,062,995...64,073,853
Ensembl chr 9:64,063,001...64,073,858 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO protein:increased expression:patellar tendon: RGD PMID:23776285 RGD:12793064 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:22926534 RGD:8549751 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G POSTN periostin ISO protein:increased expression:peritendon: RGD PMID:19743505 RGD:2314473 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Pathologic Processes 7349
        Inflammation 2397
          myositis 79
            Familial Idiopathic Inflammatory Myopathy 2
            Macrophagic Myofasciitis 0
            Orbital Myositis 0
            antisynthetase syndrome 1
            fibromyalgia + 13
            granulomatous myositis 0
            inclusion body myositis + 28
            myositis fibrosa 0
            myositis ossificans 2
            polymyositis + 38
            pyomyositis 0
            tendinitis + 5
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        peripheral nervous system disease 3993
          neuropathy 3802
            neuromuscular disease 2980
              muscular disease 2091
                muscle tissue disease 1265
                  myopathy 980
                    myositis 79
                      Familial Idiopathic Inflammatory Myopathy 2
                      Macrophagic Myofasciitis 0
                      Orbital Myositis 0
                      antisynthetase syndrome 1
                      fibromyalgia + 13
                      granulomatous myositis 0
                      inclusion body myositis + 28
                      myositis fibrosa 0
                      myositis ossificans 2
                      polymyositis + 38
                      pyomyositis 0
                      tendinitis + 5
paths to the root