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
Accession: DOID:633
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 .
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Fcgr3a
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:SNP:exon:p.F158V (rs396991)(human)
RGD
PMID:19493236
RGD:5508428
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:8952317
RGD:8548628
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Ighg1
immunoglobulin heavy constant gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18821675
NCBI chr 6:139,140,572...139,784,388
Ensembl chr 6:139,140,679...139,142,218
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Igkc
immunoglobulin kappa constant
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18821675
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Il18
interleukin 18
treatment
ISO
RGD
PMID:16968394
RGD:8655903
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:skeletal muscle (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:10886238 , PMID:18251582
RGD:8549795
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism, haplotype:cds:HLA-DQB1*02 (human)
RGD
PMID:17586554
RGD:5147629
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
ISO
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Srsf1
serine and arginine rich splicing factor 1
ISO
protein:decreased expression:muscle (human)
RGD
PMID:16574722
RGD:11038773
NCBI chr10:75,334,200...75,341,197
Ensembl chr10:75,335,146...75,341,197
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Tars1
threonyl-tRNA synthetase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23425968
NCBI chr 2:61,394,632...61,414,115
Ensembl chr 2:61,394,770...61,414,102
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Tnf
tumor necrosis factor
ISO
protein:increased expression:muscle:
RGD
PMID:10399751
RGD:7401187
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: :HLA-DQA1*0501; DNA:polymorphism (human)
RGD
PMID:18671865 , PMID:8666549 , PMID:15067086
RGD:5147790 , RGD:8547569 , RGD:5147796
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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Il1b
interleukin 1 beta
ISO
ClinVar Annotator: match by term: Antisynthetase syndrome
ClinVar
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Angptl2
angiopoietin-like 2
ISS
MouseDO
NCBI chr 3:12,262,822...12,292,665
Ensembl chr 3:12,262,822...12,292,663
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C2
complement C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3501473
NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
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C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11359403
NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
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Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:limb muscle:
RGD
PMID:15772970
RGD:8661727
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Cd36
CD36 molecule
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:17572512
RGD:6893508
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Cd40
CD40 molecule
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
RGD
PMID:18050371
RGD:8547765
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:expression:serum
RGD
PMID:22394569
RGD:9491763
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:9182923
RGD:8662437
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:8952317
RGD:8548628
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Ifng
interferon gamma
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:20601655
RGD:4889547
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19035492
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19035492
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il4
interleukin 4
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms:cds:p.G54D,G57E(human)
RGD
PMID:12485445
RGD:8693750
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mmp1
matrix metallopeptidase 1
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:11157561
RGD:8547876
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mmp9
matrix metallopeptidase 9
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:11157561
RGD:8547876
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Pms1
PMS1 homolog 1, mismatch repair system component
ISO
RGD
PMID:15856462
RGD:2324870
NCBI chr 9:53,120,656...53,206,520
Ensembl chr 9:53,120,656...53,206,516
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human)
RGD
PMID:22402141
RGD:8661693
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Thbd
thrombomodulin
ISO
RGD
PMID:17899683
RGD:5685006
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19035492
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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C3
complement C3
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Cfb
complement factor B
ISO
associated with Leprosy
RGD
PMID:2783924
RGD:7421527
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Behcet Syndrome;DNA:deletion:: (human)
RGD
PMID:22766250
RGD:7794848
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Lta
lymphotoxin alpha
ISO
associated with Sarcoidosis;DNA:polymorphism:intron
RGD
PMID:19225544
RGD:8548773
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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RT1-CE13
RT1 class I, locus CE13
ISO
associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human)
RGD
PMID:12198697
RGD:7364926
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human)
RGD
PMID:12198697
RGD:7364926
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Vdr
vitamin D receptor
susceptibility
ISO
associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)
RGD
PMID:24880677
RGD:13217417
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
susceptibility
ISO
DNA:snp:cds:p.R620W (rs2476601) (human)
RGD
PMID:18821667
RGD:11535001
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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Cat
catalase
ISO
protein:decreased activity:mononuclear cell:
RGD
PMID:22532869
RGD:9479066
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:decreased expression:plasma
RGD
PMID:19924498
RGD:14995946
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Comt
catechol-O-methyltransferase
severity
ISO
DNA:polymorphism:cds:p.V158M(human)
RGD
PMID:24762091
RGD:13450944
NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:10341365
RGD:8549787
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: GNE myopathy ClinVar Annotator: match by term: Nonaka myopathy ClinVar Annotator: match by term: Inclusion body myopathy 2 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600737 ClinVar Annotator: match by OMIM:605820
OMIM ClinVar CTD
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 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
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Sqstm1
sequestosome 1
ISO
ClinVar Annotator: match by term: Nonaka myopathy
ClinVar OMIM
PMID:12374763 PMID:17129171 PMID:23417734 PMID:26208961 PMID:26627873 PMID:28492532
NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
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Vcp
valosin-containing protein
ISO
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 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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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 OMIM
PMID:11891683 PMID:23455423 PMID:25741868 PMID:28492532
NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
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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 ClinVar Annotator: match by OMIM:615424
OMIM ClinVar
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868
NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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Egf
epidermal growth factor
ISO
protein:increased expression:plasma
RGD
PMID:24119107
RGD:10059681
NCBI chr 2:68,820,616...68,895,537
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
DNA:missense mutation:cds:p.D290V (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:23455423
RGD:10395280
NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
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Tnf
tumor necrosis factor
ISO
protein:increased expression:plasma
RGD
PMID:24119107
RGD:10059681
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Vcp
valosin-containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25884947
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:limb muscle:
RGD
PMID:15772970
RGD:8661727
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Cd36
CD36 molecule
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:17572512
RGD:6893508
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Clu
clusterin
ISO
RGD
PMID:15912881
RGD:1626306
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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Csnk1a1
casein kinase 1, alpha 1
ISO
protein:increased expression:muscle:
RGD
PMID:18191026
RGD:10395231
NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
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Dag1
dystroglycan 1
ISO
RGD
PMID:14972325
RGD:11537409
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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Fas
Fas cell surface death receptor
ISO
mRNA,protein:increased expression:muscle
RGD
PMID:9450780
RGD:12903959
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inclusion body myositis
CTD ClinVar
PMID:17261181 PMID:25741868
NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
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Myh2
myosin heavy chain 2
ISO
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 chr10:53,711,895...53,738,164
Ensembl chr10:53,713,938...53,848,347
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:11837748
RGD:1581257
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Tubg1
tubulin, gamma 1
ISO
RGD
PMID:15912881
RGD:1626306
NCBI chr10:89,030,865...89,037,455
Ensembl chr10:89,030,865...89,037,455
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Vcp
valosin-containing protein
ISO
IBMPFD, OMIM:167320
RGD
PMID:15034582
RGD:1599735
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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Acvr1
activin A receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:44,432,476...44,539,680
Ensembl chr 3:44,432,471...44,522,930
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:8678932
RGD:734648
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3259592 PMID:6982619
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Otulin
OTU deubiquitinase with linear linkage specificity
ISO
ClinVar Annotator: match by term: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
ClinVar OMIM
PMID:27523608 PMID:27559085
NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
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Ccr2
C-C motif chemokine receptor 2
ISO
protein:increased expression:limb muscle:
RGD
PMID:15772970
RGD:8661727
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:expression:serum
RGD
PMID:22394569
RGD:9491763
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Eln
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:8952317
RGD:8548628
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Ifng
interferon gamma
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:20601655
RGD:4889547
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il4
interleukin 4
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:19953283
RGD:7794747
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Mmp1
matrix metallopeptidase 1
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:11157561
RGD:8547876
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mmp9
matrix metallopeptidase 9
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:11157561
RGD:8547876
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Pms1
PMS1 homolog 1, mismatch repair system component
ISO
RGD
PMID:15856462
RGD:2324870
NCBI chr 9:53,120,656...53,206,520
Ensembl chr 9:53,120,656...53,206,516
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Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNP:intron: (rs7582694) (human)
RGD
PMID:24632671
RGD:8661720
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:serum
RGD
PMID:11055823
RGD:8661747
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:serum
RGD
PMID:11055823
RGD:8661747
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Fancg
FA complementation group G
ISO
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 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
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Gas7
growth arrest specific 7
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:54,010,723...54,240,805
Ensembl chr10:54,126,486...54,236,476
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Glp2r
glucagon-like peptide 2 receptor
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:54,260,290...54,323,839
Ensembl chr10:54,260,290...54,323,439
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Myh1
myosin heavy chain 1
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:53,740,841...53,764,610
Ensembl chr10:53,713,938...53,848,347
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Myh13
myosin heavy chain 13
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:53,921,077...53,927,553
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Myh2
myosin heavy chain 2
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar Annotator: match by term: Inclusion body myopathy 3 ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
OMIM ClinVar
PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 PMID:16130113 PMID:20418530 PMID:22349865 PMID:23388406 PMID:23489661 PMID:24033266 PMID:24193343 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30662633
NCBI chr10:53,711,895...53,738,164
Ensembl chr10:53,713,938...53,848,347
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Myh4
myosin heavy chain 4
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:53,778,456...53,801,605
Ensembl chr10:53,713,938...53,848,347
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Myh8
myosin heavy chain 8
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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Rcvrn
recoverin
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:54,246,250...54,253,996
Ensembl chr10:54,246,250...54,253,996
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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Havcr2
hepatitis A virus cellular receptor 2
ISO
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 chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
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Ccn2
cellular communication network factor 2
IEP
protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat)
RGD
PMID:19743505
RGD:2314473
NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
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Fmod
fibromodulin
IEP
RGD
PMID:19955224
RGD:2315073
NCBI chr13:50,874,886...50,885,503
Ensembl chr13:50,873,605...50,885,563
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Lrp5
LDL receptor related protein 5
IEP
protein:increased expression:patellar tendon:
RGD
PMID:23776285
RGD:12793064
NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
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Mmp1
matrix metallopeptidase 1
IEP
RGD
PMID:22926534
RGD:8549751
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Postn
periostin
IEP
protein:increased expression:peritendon:
RGD
PMID:19743505
RGD:2314473
NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
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