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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:inclusion body myositis
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Accession:DOID:3429 term browser browse the term
Definition:A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. (DO)
Synonyms:exact_synonym: HIBM;   Hereditary Inclusion Body Myopathy;   IBM;   inclusion body myositides;   sporadic inclusion body myopathy;   sporadic inclusion body myositis
 primary_id: MESH:D018979
 alt_id: OMIM:147421
 xref: EFO:0007323;   GARD:3896;   ICD10CM:G72.41;   ICD9CM:359.71;   MONDO:0007827;   NCI:C84786;   ORDO:611
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
inclusion body myositis term browser
Symbol Object Name 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 chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865 		JBrowse link
G CLU clusterin ISO RGD PMID:15912881 RGD:1626306 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523 		JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO protein:increased expression:muscle: RGD PMID:18191026 RGD:10395231 NCBI chr 5:144,919,775...144,977,105
Ensembl chr 5:150,929,420...150,985,912 		JBrowse link
G DAG1 dystroglycan 1 ISO RGD PMID:14972325 RGD:11537409 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G FAS Fas cell surface death receptor ISO mRNA,protein:increased expression:muscle RGD PMID:9450780 RGD:12903959 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		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 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588 		JBrowse link
G MYH2 myosin heavy chain 2 ISO IBM3, OMIM:605637, DNA:point mutation:exon:E706K RGD PMID:11114175 RGD:1600532 NCBI chr17:41,103,730...41,132,264
Ensembl chr17:45,851,160...45,879,666 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11837748 RGD:1581257 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G TUBG1 tubulin gamma 1 ISO RGD PMID:15912881 RGD:1626306 NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340 		JBrowse link
G VCP valosin containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
congenital myopathy 6 term browser
Symbol Object Name 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 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648 		JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,454,100...41,743,777
Ensembl chr17:46,200,364...46,480,618 		JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,764,686...41,830,966
Ensembl chr17:46,508,568...46,574,695 		JBrowse link
G LOC100988585 transmembrane protein 220 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:40,923,397...40,973,382
Ensembl chr17:45,703,642...45,720,520
Ensembl chr17:45,703,642...45,720,520 		JBrowse link
G LOC103782669 myosin-8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038 		JBrowse link
G LOC103786029 myosin-4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,183,808...41,209,774
Ensembl chr17:45,931,196...45,957,149 		JBrowse link
G MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,134,861...41,161,226
Ensembl chr17:45,882,261...45,908,467 		JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,288,536...41,351,827
Ensembl chr17:46,035,614...46,098,800 		JBrowse link
G MYH2 myosin heavy chain 2 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 chr17:41,103,730...41,132,264
Ensembl chr17:45,851,160...45,879,666 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:41,747,255...41,759,074
Ensembl chr17:46,490,605...46,502,962 		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 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
GNE myopathy term browser
Symbol Object Name 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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		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 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G SQSTM1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:174,960,727...174,989,946
Ensembl chr 5:182,284,436...182,299,093 		JBrowse link
inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name 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 chr10:76,065,939...76,116,400
Ensembl chr10:78,724,086...78,775,037 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name 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 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name 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 chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name 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 chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443 		JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name 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 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443 		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 chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		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 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Pathologic Processes 7433
        Inflammation 2416
          myositis 82
            inclusion body myositis 29
              Desmin Storage Myopathy 0
              GNE myopathy 4
              congenital myopathy 6 12
              inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4039
          neuropathy 3848
            neuromuscular disease 3026
              muscular disease 2119
                muscle tissue disease 1275
                  myopathy 987
                    myositis 82
                      inclusion body myositis 29
                        Desmin Storage Myopathy 0
                        GNE myopathy 4
                        congenital myopathy 6 12
                        inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 6
paths to the root