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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:Inflammation of a muscle or muscle tissue.
Synonyms:exact_synonym: Focal Myositides;   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;   Inflammatory disorder of muscle;   Myositides;   Proliferative Myositides;   Proliferative Myositis
 primary_id: MESH:D009220;   RDO:0003679
 xref: 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 family with sequence similarity 111 member B IAGP ClinVar Annotator: match by term: Myositis ClinVar PMID:25741868 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility IAGP DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19493236 RGD:5508428 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G HGF hepatocyte growth factor disease_progression IEP protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-DQA1*05 (human)
DNA:polymorphisms: :
DNA:polymorphisms:multiple
RGD PMID:17586554, PMID:8814062, PMID:9550481, PMID:16609350 RGD:5147629, RGD:8547570, RGD:5147869, RGD:5147793 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism, haplotype:cds:HLA-DQB1*02 (human) RGD PMID:17586554 RGD:5147629 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 IAGP DNA:polymorphisms:multiple
DNA:polymorphism:cds:HLA-DRB1*0301 (human)
DNA:polymorphisms, haplotypes:cds:HLA-DRB1*02, HLA-DRB1*03 (human)
RGD PMID:21125283, PMID:16609350, PMID:17586554 RGD:5147568, RGD:5147793, RGD:5147629 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) EXP CTD Direct Evidence: marker/mechanism CTD PMID:18821675 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) EXP CTD Direct Evidence: marker/mechanism CTD PMID:18821675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGKC immunoglobulin kappa constant EXP CTD Direct Evidence: marker/mechanism CTD PMID:18821675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G IL18 interleukin 18 treatment IEP RGD PMID:16968394 RGD:8655903 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP
EXP
protein:increased expression:skeletal muscle (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10886238, PMID:18251582 RGD:8549795 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 IEP protein:decreased expression:muscle (human) RGD PMID:16574722 RGD:11038773 NCBI chr17:58,000,919...58,007,273
Ensembl chr17:58,000,919...58,007,346
JBrowse link
G TARS1 threonyl-tRNA synthetase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23425968 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:muscle: RGD PMID:10399751 RGD:7401187 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IEP
IAGP
DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865, PMID:8666549, PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta IAGP ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL2 angiopoietin like 2 ISS MouseDO NCBI chr 9:127,087,348...127,122,684
Ensembl chr 9:127,087,348...127,122,635
JBrowse link
G C2 complement C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,672
JBrowse link
G C9 complement C9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,424,868
JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G CD36 CD36 molecule IEP mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40 CD40 molecule IEP RGD PMID:18050371 RGD:8547765 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand IEP RGD PMID:18050371 RGD:8547765 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IEP protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G HGF hepatocyte growth factor disease_progression IEP protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HLA-B major histocompatibility complex, class I, B EXP CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,269,491...31,357,188
JBrowse link
G IFNG interferon gamma IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL4 interleukin 4 IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IDA RGD PMID:15856462 RGD:2324870 NCBI chr 2:189,784,142...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G THBD thrombomodulin IEP RGD PMID:17899683 RGD:5685006 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,226,163
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 IEP associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CFB complement factor B IEP associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,269,491...31,357,188
JBrowse link
G LTA lymphotoxin alpha IAGP associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G TNF tumor necrosis factor susceptibility IAGP associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VDR vitamin D receptor susceptibility IAGP associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Familial Idiopathic Inflammatory Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility IAGP DNA:snp:cds:p.R620W (rs2476601) (human) RGD PMID:18821667 RGD:11535001 NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
fibromyalgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase IEP protein:decreased activity:mononuclear cell: RGD PMID:22532869 RGD:9479066 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP protein:decreased expression:plasma RGD PMID:19924498 RGD:14995946 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G COMT catechol-O-methyltransferase severity IAGP DNA:polymorphism:cds:p.V158M(human) RGD PMID:24762091 RGD:13450944 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,733...19,969,975
Ensembl chr22:19,941,733...19,969,975
JBrowse link
G IL1RN interleukin 1 receptor antagonist severity IEP protein:increased expression:serum (human) RGD PMID:10341365 RGD:8549787 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
GNE myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP
EXP
ClinVar Annotator: match by term: Nonaka myopathy
ClinVar Annotator: match by term: GNE myopathy
ClinVar Annotator: match by term: Inclusion body myopathy 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2473753, PMID:2808337, PMID:10330343, PMID:10356312, PMID:11326336, PMID:11528398, PMID:11916006, PMID:12177386, PMID:12325084, PMID:12409274, PMID:12473753, PMID:12473769, PMID:12473780, PMID:12497639, PMID:12743242, PMID:12811782, PMID:12913203, PMID:14678807, PMID:14707127, PMID:14733963, PMID:14972325, PMID:15136692, PMID:15146476, PMID:15147877, PMID:15330759, PMID:15670773, PMID:15793292, PMID:15834044, PMID:15987957, PMID:16112887, PMID:16372135, PMID:16503389, PMID:16503651, PMID:16810679, PMID:17098358, PMID:17164266, PMID:17261181, PMID:17698786, PMID:17704511, PMID:18383535, PMID:18555875, PMID:19078806, PMID:19596068, PMID:19841673, PMID:19917666, PMID:20030229, PMID:20059379, PMID:20175955, PMID:20300792, PMID:20301439, PMID:20346669, PMID:21131200, PMID:21294420, PMID:21307865, PMID:21436238, PMID:21517694, PMID:21708040, PMID:21873062, PMID:21910480, PMID:22196754, PMID:22231866, PMID:22343627, PMID:22507750, PMID:22883483, PMID:23127962, PMID:23278550, PMID:23437777, PMID:23496965, PMID:23549799, PMID:23558691, PMID:23806237, PMID:24005727, PMID:24027297, PMID:24033266, PMID:24136589, PMID:24474513, PMID:24695763, PMID:24707269, PMID:24737350, PMID:24796702, PMID:25002140, PMID:25046369, PMID:25061177, PMID:25123033, PMID:25182749, PMID:25257349, PMID:25303967, PMID:25422667, PMID:25617006, PMID:25741868, PMID:25966635, PMID:25978849, PMID:25986339, PMID:26161358, PMID:26231298, PMID:26467025, PMID:26627873, PMID:26968811, PMID:26980148, PMID:27363342, PMID:27457812, PMID:27479822, PMID:27535533, PMID:27829678, PMID:27858732, PMID:27919547, PMID:28099567, PMID:28320138, PMID:28403181, PMID:28492532, PMID:28641925, PMID:28717665, PMID:28895049, PMID:29307446, PMID:29406958, PMID:29480215, PMID:30390020, PMID:30990900, PMID:31064749, PMID:31286697 NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,056
JBrowse link
G SQSTM1 sequestosome 1 IAGP ClinVar Annotator: match by term: Nonaka myopathy ClinVar
OMIM
PMID:12374763, PMID:17129171, PMID:23417734, PMID:26208961, PMID:26627873, PMID:28492532 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
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 IAGP ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 OMIM
ClinVar
PMID:7182974, PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21249466, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22572540, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24123792, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25326637, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:26627873, PMID:27165006, PMID:27226613, PMID:27768726, PMID:28130640, PMID:28360103, PMID:28492532, PMID:28692196 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
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 IAGP 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
OMIM
PMID:11891683, PMID:23455423, PMID:25741868, PMID:28492532 NCBI chr 7:26,189,920...26,200,775
Ensembl chr 7:26,173,057...26,201,529
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 IAGP ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 ClinVar
OMIM
PMID:20116073, PMID:23455423, PMID:25616961, PMID:25741868 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
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 IEP protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP
EXP
DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23455423 RGD:10395280 NCBI chr 7:26,189,920...26,200,775
Ensembl chr 7:26,173,057...26,201,529
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCP valosin containing protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
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 IEP protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G CD36 CD36 molecule IEP mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CLU clusterin IDA RGD PMID:15912881 RGD:1626306 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 IEP protein:increased expression:muscle: RGD PMID:18191026 RGD:10395231 NCBI chr 5:149,492,982...149,551,439
Ensembl chr 5:149,492,982...149,551,471
JBrowse link
G DAG1 dystroglycan 1 IGI RGD PMID:14972325 RGD:11537409 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G FAS Fas cell surface death receptor IEP mRNA,protein:increased expression:muscle RGD PMID:9450780 RGD:12903959 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myositis
CTD
ClinVar
PMID:17261181, PMID:25741868 NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,056
JBrowse link
G MYH2 myosin heavy chain 2 IAGP IBM3, OMIM:605637, DNA:point mutation:exon:E706K
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar PMID:20418530, PMID:23388406, PMID:24033266, PMID:24193343, PMID:28492532, PMID:11114175 RGD:1600532 NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700
JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Inclusion body myopathy 3 ClinVar PMID:20418530, PMID:23388406, PMID:24033266, PMID:24193343, PMID:28492532 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,383,144...10,623,886
JBrowse link
G SOD2 superoxide dismutase 2 IDA RGD PMID:11837748 RGD:1581257 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TUBG1 tubulin gamma 1 IDA RGD PMID:15912881 RGD:1626306 NCBI chr17:42,609,390...42,615,238
Ensembl chr17:42,609,683...42,615,238
JBrowse link
G VCP valosin containing protein IAGP IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,444...157,876,330
Ensembl chr 2:157,736,444...157,876,330
JBrowse link
G BMP4 bone morphogenetic protein 4 IEP RGD PMID:8678932 RGD:734648 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3259592, PMID:6982619 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
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 IAGP ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome ClinVar
OMIM
PMID:27523608, PMID:27559085 NCBI chr 5:14,660,794...14,716,552
Ensembl chr 5:14,664,664...14,699,850
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 IEP protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,744...46,360,940
Ensembl chr 3:46,353,744...46,360,940
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IEP protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G ELN elastin IDA RGD PMID:12643515 RGD:9585739 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G HGF hepatocyte growth factor disease_progression IEP protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G IFNG interferon gamma IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL4 interleukin 4 IEP mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IDA RGD PMID:15856462 RGD:2324870 NCBI chr 2:189,784,142...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP DNA:SNP:intron: (rs7582694) (human) RGD PMID:24632671 RGD:8661720 NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity IEP protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity IEP protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
proximal myopathy and ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,016
Ensembl chr 9:35,073,835...35,080,016
JBrowse link
G GAS7 growth arrest specific 7 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,910,606...10,198,606
Ensembl chr17:9,910,609...10,198,551
JBrowse link
G GLP2R glucagon like peptide 2 receptor IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,825,508...9,894,163
Ensembl chr17:9,822,206...9,892,099
JBrowse link
G MYH1 myosin heavy chain 1 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,492,307...10,518,719
Ensembl chr17:10,492,307...10,518,542
JBrowse link
G MYH13 myosin heavy chain 13 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,300,865...10,373,006
Ensembl chr17:10,300,865...10,373,130
JBrowse link
G MYH2 myosin heavy chain 2 IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar
OMIM
PMID:11114175, PMID:11889243, PMID:15548556, PMID:15741996, PMID:16130113, PMID:20418530, PMID:22349865, PMID:22496423, PMID:22918376, PMID:23388406, PMID:23489661, PMID:24033266, PMID:24193343, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30662633 NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700
JBrowse link
G MYH4 myosin heavy chain 4 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,443,058...10,469,559
Ensembl chr17:10,443,290...10,469,559
JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950
JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar PMID:11114175, PMID:11889243, PMID:15548556, PMID:15741996, PMID:16130113, PMID:20418530, PMID:22349865, PMID:22496423, PMID:22918376, PMID:23388406, PMID:23489661, PMID:24033266, PMID:24193343, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30662633 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,383,144...10,623,886
JBrowse link
G RCVRN recoverin IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,896,320...9,905,271
Ensembl chr17:9,896,320...9,905,271
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD
ClinVar
OMIM
PMID:25741868, PMID:30374066, PMID:30792187 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,832...157,142,869
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 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G FMOD fibromodulin ISO RGD PMID:19955224 RGD:2315073 NCBI chr 1:203,340,628...203,351,122
Ensembl chr 1:203,340,628...203,351,758
JBrowse link
G LRP5 LDL receptor related protein 5 ISO protein:increased expression:patellar tendon: RGD PMID:23776285 RGD:12793064 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:22926534 RGD:8549751 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G POSTN periostin ISO protein:increased expression:peritendon: RGD PMID:19743505 RGD:2314473 NCBI chr13:37,562,585...37,598,839
Ensembl chr13:37,562,583...37,598,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17777
    disease of anatomical entity 16339
      musculoskeletal system disease 5929
        muscular disease 1270
          myositis 81
            Familial Idiopathic Inflammatory Myopathy 1
            Macrophagic Myofasciitis 0
            Orbital Myositis 0
            antisynthetase syndrome 1
            fibromyalgia + 14
            granulomatous myositis 0
            inclusion body myositis + 25
            myositis fibrosa 0
            myositis ossificans 2
            polymyositis + 40
            pyomyositis 0
            tendinitis + 5
Path 2
Term Annotations click to browse term
  disease 17777
    disease of anatomical entity 16339
      nervous system disease 12617
        peripheral nervous system disease 2610
          neuropathy 2439
            neuromuscular disease 1903
              muscular disease 1270
                muscle tissue disease 869
                  myopathy 723
                    myositis 81
                      Familial Idiopathic Inflammatory Myopathy 1
                      Macrophagic Myofasciitis 0
                      Orbital Myositis 0
                      antisynthetase syndrome 1
                      fibromyalgia + 14
                      granulomatous myositis 0
                      inclusion body myositis + 25
                      myositis fibrosa 0
                      myositis ossificans 2
                      polymyositis + 40
                      pyomyositis 0
                      tendinitis + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.