IBM
MCID: INC002
MIFTS: 77

Inclusion Body Myositis (IBM) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Inclusion Body Myositis

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (hibm), gne-related myopathy,  distal myopathy with rimmed vacuoles, and nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). this disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. inclusion body myopathy 2 is caused by mutations in the gne gene. the condition is inherited in an autosomal recessive manner. treatment is focused on managing individual symptoms. last updated: 1/13/2014

MalaCards: Inclusion Body Myositis, also known as nonaka myopathy, is related to myositis and polymyositis, and has symptoms including areflexia/hyporeflexia, autoimmunity/autoimmune reaction/autoantibodies and myalgia/muscular pain. An important gene associated with Inclusion Body Myositis is GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase), and among its related pathways are A-beta Uptake and Degradation and Alzheimers Disease Pathway. The compounds metrifonate and 24s-hydroxy-cholesterol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, t cells and brain, and related mouse phenotypes are renal/urinary system and growth/size/body.

Disease Ontology:8 A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms.

Genetics Home Reference:21 Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.

NINDS:44 Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness.

Wikipedia:65 Inclusion body myositis (IBM) is an inflammatory muscle disease, characterized by slowly progressive... more...

Description from OMIM:47 147421,605820,600737

Aliases & Classifications for Inclusion Body Myositis

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8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 49Orphanet, 47OMIM, 62UMLS, 21Genetics Home Reference, 9diseasecard, 22GTR, 45Novoseek, 35MeSH, 27ICD9CM, 40NCIt, 58SNOMED-CT, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

49
inclusion body myositis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal
nonaka myopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

inclusion body myositis 8 43 44 10 49 47 62
nonaka myopathy 8 9 43 22 21 47 45 49 62
distal myopathy with rimmed vacuoles 8 43 21 49
inclusion body myopathy 2 8 43 22 21
ibm2 8 43 21 49
inclusion body myopathy, autosomal recessive 43 21 47
hereditary inclusion body myopathy 8 43 21
hibm 8 43 21
dmrv 43 21 49
inclusion body myopathy, quadriceps-sparing 43 21
distal myopathy, nonaka type 8 49
rimmed vacuole myopathy 43 21
gne myopathy 43 49
ibm 43 49
qsm 43 21
inclusion body myopathy autosomal recessive 62
hereditary inclusion body myopathy type 2 49
inclusion body myopathy, sporadic 62
sporadic inclusion body myositis 49
inclusion body myopathy type 2 49
quadriceps sparing myopathy 43
quadriceps-sparing myopathy 49
myositis inclusion body 45
inflammatory myopathies 44
inflammatory myopathy 43
hibm2 49
sibm 49


External Ids:

Disease Ontology8 DOID:3429
MeSH35 D018979
ICD9CM27 359.71
NCIt40 C84786
SNOMED-CT58 72315009
SNOMED-CT via Orphanet59 72315009
ICD10 via Orphanet26 M60.8, G71.8
UMLS via Orphanet63 C0238190
MESH via Orphanet36 C536816

Related Diseases for Inclusion Body Myositis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Inclusion Body Myositis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1myositis32.3RPS27A, CHKB, APP, MSTN
2polymyositis31.5RPS27A, CHKB
3myopathy31.3GNE, APP, RPS27A, CHKB, MSTN
4muscular dystrophy30.9MSTN, CHKB, GNE
5dementia30.8APOE, APP, RPS27A
6alzheimer's disease30.8APOE, APP, CXCR3, RPS27A, CHKB
7frontotemporal dementia30.7APOE, RPS27A, APP
8tauopathy30.4RPS27A, APP
9autoimmune thyroiditis30.4CHKB, CXCR3
10amyotrophic lateral sclerosis30.4APP, RPS27A, CHKB
11creutzfeldt-jakob disease30.4RPS27A, APP, APOE
12amyloidosis30.4APOE, RPS27A, APP
13parkinson's disease30.3APP, APOE, RPS27A, CHKB
14systemic lupus erythematosus30.3CXCR3, RPS27A, C4A
15neuromuscular disease30.3GNE, CHKB, MSTN
16sialuria30.1GNE
17duchenne muscular dystrophy30.0CHKB, MSTN
18dermatomyositis10.8
19dysphagia10.8
20inclusion body myopathy 310.6
21hepatitis c10.5
22oculopharyngeal muscular dystrophy10.5
23hepatitis10.5
24idiopathic myopathy10.5
25arthritis10.4
26neuropathy10.4
27respiratory failure10.4
28rheumatoid arthritis10.4
29myofibrillar myopathy10.4
30hepatitis c virus10.4
31atrioventricular block10.4
32distal muscular dystrophy10.4
33restrictive cardiomyopathy10.4
34oculopharyngodistal myopathy10.4
35hereditary inclusion body myopathy type 410.4
36interstitial lung disease10.4
37inflammatory myopathy with abundant macrophages10.4
38neuronitis10.3
39common variable immunodeficiency10.3
40leukemia10.3
41lupus erythematosus10.3
42peripheral neuropathy10.3
43t-cell leukemia10.3
44blindness10.3
45gne-related myopathy10.3
46hereditary myopathy with early respiratory failure10.3
47scleroderma10.2
48axonal neuropathy10.2
49lateral sclerosis10.2
50limb-girdle muscular dystrophy10.2

Graphical network of the top 20 diseases related to Inclusion Body Myositis:



Diseases related to inclusion body myositis

Symptoms for Inclusion Body Myositis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

147421

Clinical features from OMIM:

147421,605820,600737

Symptoms:

49 (show all 8)
  • areflexia/hyporeflexia
  • autoimmunity/autoimmune reaction/autoantibodies
  • myalgia/muscular pain
  • abnormal emg/electromyogram/electropmyography
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • muscle weakness/flaccidity
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia

Drugs & Therapeutics for Inclusion Body Myositis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Inclusion Body Myositis

Search NIH Clinical Center for Inclusion Body Myositis

Genetic Tests for Inclusion Body Myositis

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22GTR
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Genetic tests related to Inclusion Body Myositis:

id Genetic test Affiliating Genes
1 Inclusion Body Myopathy 222
2 Nonaka Myopathy22

Anatomical Context for Inclusion Body Myositis

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33MalaCards
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MalaCards organs/tissues related to Inclusion Body Myositis:

33
Skeletal muscle, T cells, Brain, Testes, Myeloid, Endothelial, Thyroid, Heart, Skin

Animal Models for Inclusion Body Myositis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Inclusion Body Myositis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7GNE, APOE, CXCR3, MSTN, TREX1
2MP:00053788.1APOE, GNE, DUSP6, TREX1, MSTN, APP
3MP:00053858.1TREX1, MSTN, CXCR3, DUSP6, APOE, GNE
4MP:00053698.0CHKB, TREX1, DUSP6, APP, APOE, GNE
5MP:00053877.9TREX1, MSTN, CXCR3, DUSP6, APOE, APP
6MP:00053847.8TREX1, MSTN, CXCR3, DUSP6, APP, APOE
7MP:00107687.7APP, DUSP6, CXCR3, MSTN, GNE, TREX1
8MP:00053767.6APP, DUSP6, CHKB, CXCR3, GNE, APOE

Publications for Inclusion Body Myositis

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52PubMed
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Articles related to Inclusion Body Myositis:

(show top 50)    (show all 490)
idTitleAuthorsYear
1
Primary respiratory failure due to inclusion body myositis: think outside the box. (23589953)
2013
2
188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands. (24268584)
2013
3
Inclusion-body myositis associated with Alzheimer's disease. (23606855)
2013
4
The effect of anakinra, an IL1 receptor antagonist, in patients with sporadic inclusion body myositis (sIBM): a small pilot study. (23998706)
2013
5
Inclusion body myositis. (23250766)
2013
6
Inclusion body myositis associated with SjAPgren's syndrome. (23233115)
2013
7
TDP-43 proteinopathies - from frontotemporal lobar degeneration to inclusion body myositis]. (23023438)
2012
8
Frequency of autoantibodies and correlation with HLA-DRB1 genotype in sporadic inclusion body myositis (s-IBM): a population control study. (22554526)
2012
9
TWEAK in inclusion-body myositis muscle: possible pathogenic role of a cytokine inhibiting myogenesis. (22314077)
2012
10
Nitric oxide stress in sporadic inclusion body myositis muscle fibres: inhibition of inducible nitric oxide synthase prevents interleukin-1I^-induced accumulation of I^-amyloid and cell death. (22436237)
2012
11
Treatment of inclusion body myositis: is low-dose intravenous immunoglobulin the solution? (20044785)
2012
12
Inclusion body myositis: diagnosis, pathogenesis, and treatment options. (21444018)
2011
13
TDP-43 plasma levels do not differentiate sporadic inclusion body myositis from other inflammatory myopathies. (21046407)
2010
14
Inclusion body myositis masquerading as amyotrophic lateral sclerosis. (21059520)
2010
15
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. (19291799)
2009
16
Detecting dysphagia in inclusion body myositis. (19603245)
2009
17
TDP-43: a reliable immunohistochemistry marker for inclusion body myositis? (19533631)
2009
18
Inclusion body myositis and HIV infection. (18641890)
2008
19
Interplay between inflammation and degeneration: using inclusion body myositis to study "neuroinflammation". (18626972)
2008
20
Sporadic inclusion body myositis: phenotypic variability and influence of HLA-DR3 in a cohort of 57 Australian cases. (18258695)
2008
21
AbetaPP-overexpression and proteasome inhibition increase alphaB-crystallin in cultured human muscle: relevance to inclusion-body myositis. (17056255)
2006
22
Inclusion body myositis: an underdiagnosed myopathy of older people. (16364943)
2006
23
Messenger RNA degradation may be inhibited in sporadic inclusion body myositis. (16087907)
2005
24
Steroid-responsive inclusion body myositis associated with endometrial cancer. (15789894)
2005
25
Sporadic inclusion body myositis: morphology, regeneration, and cytoskeletal structure of muscle fibres. (15146016)
2004
26
119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10-12 October 2003, Naarden, The Netherlands. (15099594)
2004
27
Insulin-like growth factor I in inclusion-body myositis and human muscle cultures. (15217093)
2004
28
Tau aggregates are abnormally phosphorylated in inclusion body myositis and have an immunoelectrophoretic profile distinct from other tauopathies. (15541003)
2004
29
Inclusion body myositis: clonal expansions of muscle-infiltrating T cells persist over time. (12869141)
2003
30
Anti-PM-Scl antibodies in a patient with inclusion body myositis. (12869677)
2003
31
Primary SjAPgren's syndrome associated with inclusion body myositis. (11961175)
2002
32
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy. (11303793)
2001
33
Bcl-2, Bcl-x, and Bax expression by immunohistochemistry in inclusion body myositis: a study of 27 cases. (11570908)
2001
34
Prion codon 129 homozygosity and sporadic inclusion body myositis. (11468340)
2001
35
Mapping of a candidate region for susceptibility to inclusion body myositis in the human major histocompatibility complex. (10380695)
1999
36
Dermatomyositis. Diagnosis and evaluation of dermatomyositis, polymyositis, and inclusion-body myositis. (10599341)
1999
37
Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. (9596410)
1998
38
Normal in vivo skeletal muscle oxidative metabolism in sporadic inclusion body myositis assessed by 31P-magnetic resonance spectroscopy. (9827771)
1998
39
Intracellular phosphates in inclusion body myositis--a 31P magnetic resonance spectroscopy study. (9771678)
1998
40
T-cell heterogeneity in muscle lesions of inclusion body myositis. (9600712)
1998
41
Inflammatory myopathies [polymyositis, dermatomyositis, inclusion body myositis]. (9801848)
1998
42
Hepatitis C and inclusion body myositis. (8792712)
1996
43
Sporadic inclusion body myositis: counts of different types of abnormal fibers. (8572661)
1996
44
Ubiquitinated inclusions in inclusion-body myositis patients are immunoreactive for cathepsin D but not beta-amyloid. (7478207)
1995
45
Relationship of cancer to inflammatory muscle diseases. Dermatomyositis, polymyositis, and inclusion body myositis. (7855330)
1994
46
Inclusion body myositis: analysis of 32 cases. (1331441)
1992
47
Inclusion body myositis with abundant ring fibers. (1337419)
1992
48
Light and electron microscopic localization of beta-amyloid protein in muscle biopsies of patients with inclusion-body myositis. (1321564)
1992
49
Familial inclusion body myositis among Kurdish-Iranian Jews. (1850594)
1991
50
Clinically unsuspected inclusion body myositis. (1850803)
1991

Variations for Inclusion Body Myositis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Inclusion Body Myositis:

64 (show all 37)
id Symbol AA change Variation ID SNP ID
1GNEp.Pro36LeuVAR_017945
2GNEp.Ile200PheVAR_017946
3GNEp.Asp225AsnVAR_017947
4GNEp.Arg246GlnVAR_017948
5GNEp.Arg246TrpVAR_017949
6GNEp.Cys303ValVAR_017953
7GNEp.Asp378TyrVAR_017954
8GNEp.Asp378TyrVAR_017954
9GNEp.Ala460ValVAR_017955
10GNEp.Ala460ValVAR_017955
11GNEp.Ala524ValVAR_017956
12GNEp.Phe528CysVAR_017957
13GNEp.Ile557ThrVAR_017958
14GNEp.Val572LeuVAR_017959rs121908632
15GNEp.Val572LeuVAR_017959rs121908632
16GNEp.Gly576GluVAR_017960
17GNEp.Ile587ThrVAR_017961
18GNEp.Ala631ThrVAR_017962
19GNEp.Ala631ValVAR_017963
20GNEp.Ala631ValVAR_017963
21GNEp.Tyr675HisVAR_017964
22GNEp.Val696MetVAR_017965rs121908627
23GNEp.Met712ThrVAR_017966rs28937594
24GNEp.Pro27SerVAR_021771
25GNEp.His132GlnVAR_021772
26GNEp.Arg162CysVAR_021773
27GNEp.Met171ValVAR_021774
28GNEp.Asp176ValVAR_021775rs139425890
29GNEp.Arg177CysVAR_021776
30GNEp.Gly206SerVAR_021777
31GNEp.Val216AlaVAR_021778
32GNEp.Arg306GlnVAR_021779
33GNEp.Val331AlaVAR_021780
34GNEp.Ile472ThrVAR_021781
35GNEp.Asn519SerVAR_021782
36GNEp.Ala600ThrVAR_021783
37GNEp.Ala630ThrVAR_021784

Clinvar genetic disease variations for Inclusion Body Myositis:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1GNENM_001128227.2(GNE): c.620A> T (p.Asp207Val)single nucleotide variantPathogenicrs139425890GRCh37Chr 9, 36246117: 36246117
2GNENM_001128227.2(GNE): c.2228T> C (p.Met743Thr)single nucleotide variantPathogenicrs28937594GRCh37Chr 9, 36217396: 36217396
3GNENM_001128227.2(GNE): c.1820G> A (p.Gly607Glu)single nucleotide variantPathogenicrs121908625GRCh37Chr 9, 36219924: 36219924
4GNENM_001190383.1(GNE): c.1669G> A (p.Ala557Thr)single nucleotide variantPathogenicrs121908626GRCh37Chr 9, 36218222: 36218222
5GNENM_001190383.1(GNE): c.1864G> A (p.Val622Met)single nucleotide variantPathogenicrs121908627GRCh37Chr 9, 36217445: 36217445
6GNENM_001128227.2(GNE): c.1002T> A (p.Cys334Ter)single nucleotide variantPathogenicrs121908628GRCh37Chr 9, 36233990: 36233990
7GNENM_001128227.2(GNE): c.830G> A (p.Arg277Gln)single nucleotide variantPathogenicrs121908629GRCh37Chr 9, 36236861: 36236861
8GNENM_001128227.2(GNE): c.766G> A (p.Asp256Asn)single nucleotide variantPathogenicrs121908630GRCh37Chr 9, 36236925: 36236925
9GNENM_001128227.2(GNE): c.1472C> T (p.Ala491Val)single nucleotide variantPathogenicrs121908631GRCh37Chr 9, 36223402: 36223402
10GNENM_001128227.2(GNE): c.1807G> C (p.Val603Leu)single nucleotide variantPathogenicrs121908632GRCh37Chr 9, 36219937: 36219937
11GNENM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val)indelPathogenicrs121908633GRCh37Chr 9, 36233991: 36233992
12GNENM_001128227.2(GNE): c.1985C> T (p.Ala662Val)single nucleotide variantPathogenicrs62541771GRCh37Chr 9, 36218221: 36218221
13GNENM_001128227.2(GNE): c.604A> G (p.Met202Val)single nucleotide variantPathogenicrs121908634GRCh37Chr 9, 36246133: 36246133

Expression for genes affiliated with Inclusion Body Myositis

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Inclusion Body Myositis

Search GEO for disease gene expression data for Inclusion Body Myositis.

Pathways for genes affiliated with Inclusion Body Myositis

About this section
Sources:
50PathCards, 54R&D Systems, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 30KEGG
See all sources

Pathways related to Inclusion Body Myositis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8APP, APOE
29.8APP, APOE
39.5CXCL11, CXCR3
4
Show member pathways
9.2APP, RPS27A, TREX1
5
Show member pathways
9.1RPS27A, DUSP6, APP
6
Show member pathways
7.8APP, APOE, DUSP6, CXCL11, CXCR3, RPS27A

Compounds for genes affiliated with Inclusion Body Myositis

About this section
Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Inclusion Body Myositis according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1metrifonate4510.2APOE, APP
224s-hydroxy-cholesterol4510.2APOE, APP
3thioflavin t4510.2APOE, APP
4edss4510.2APOE, CXCR3
5tacrine45 1111.2APP, APOE
6donepezil45 51 24 1113.2APP, APOE
7galantamine45 51 1112.1APOE, APP
8gemfibrozil29 45 1112.1CHKB, APOE
9rosuvastatin45 51 29 1113.0APOE, CHKB
10spec-t4510.0CHKB, APOE
11guanidine45 24 1111.9APOE, CHKB
12cysteamine45 24 1111.9APOE, RPS27A
13lovastatin45 51 61 29 1113.9APP, CHKB, APOE
14risperidone45 51 29 61 24 1114.9CHKB, APP
15simvastatin45 51 61 29 24 1114.8CHKB, APP, APOE
16bezafibrate45 29 1111.8CHKB, APOE
17thioflavine s459.7APP, RPS27A, APOE
18formate459.7RPS27A, APP, APOE
194-hydroxynonenal45 2410.7APOE, RPS27A, APP
20chloroquine45 3 51 29 1113.7APOE, APP, RPS27A
21guanidine hydrochloride459.7CHKB, RPS27A, APOE
22lactacystin459.7APP, APOE, RPS27A
23sodium dodecylsulfate459.7APOE, APP, RPS27A
24epinephrine45 24 1111.6APP, CHKB, RPS27A
25valine459.6APOE, RPS27A, APP
26n acetylcysteine459.5CHKB, RPS27A, APOE
27heparin45 29 24 1112.5CXCR3, CHKB, APOE, APP
28tamoxifen45 51 29 1112.5RPS27A, APOE, CHKB
29cholesterol45 29 24 1112.4APOE, APP, CXCR3, CHKB
30tacrolimus45 51 1111.4RPS27A, CXCR3, CHKB, APP
31aspirin45 51 29 2412.4RPS27A, APOE, APP, CHKB
32nmda45 2910.3APOE, APP, RPS27A
33glutamine459.3CHKB, RPS27A, APP, APOE
34dopamine45 29 24 1112.3APOE, APP, CHKB, RPS27A
35endotoxin459.3CHKB, CXCR3, C4A
36aspartate459.3RPS27A, CHKB, APP, APOE
37acetylcholine45 51 29 24 1113.2APOE, APP, RPS27A
38glutamate459.2CHKB, APP, APOE, RPS27A
39alanine459.1APOE, APP, CHKB, RPS27A
40creatinine459.1APOE, APP, CHKB, CXCR3, RPS27A
41vegf459.0CXCR3, APP, APOE, CHKB, RPS27A
42testosterone45 61 24 1112.0MSTN, RPS27A, APOE, APP, CHKB
43rapamycin458.9APOE, MSTN, RPS27A
44h2o2458.9APP, RPS27A, APOE, CHKB, DUSP6
45cysteine458.8CHKB, RPS27A, DUSP6, APP, APOE
46cyclosporin a45 29 6110.8RPS27A, CXCL11, CHKB, APP, APOE
47oxygen45 249.5DUSP6, MSTN, C4A, CXCR3, CHKB
48dexamethasone45 51 29 1111.4RPS27A, APP, CHKB, CXCL11, CXCR3, MSTN
49serine458.4CXCR3, C4A, APOE, RPS27A, APP
50arginine457.6RPS27A, CXCR3, CXCL11, CHKB, APP, APOE

GO Terms for genes affiliated with Inclusion Body Myositis

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Sources:
16Gene Ontology
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Biological processes related to Inclusion Body Myositis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell proliferationGO:0019379.8APOE, CXCR3
2positive regulation of cAMP metabolic processGO:0308169.7CXCL11, CXCR3
3T cell chemotaxisGO:0108189.7CXCL11, CXCR3
4regulation of type I interferon productionGO:0324799.6TREX1, RPS27A
5positive regulation of cAMP-mediated signalingGO:0439509.6CXCL11, CXCR3
6positive regulation of release of sequestered calcium ion into cytosolGO:0512819.6CXCL11, CXCR3
7nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.6APP, RPS27A
8stress-activated MAPK cascadeGO:0514039.4RPS27A, DUSP6
9inflammatory responseGO:0069548.4CXCL11, CXCR3, C4A
10innate immune responseGO:0450878.1C4A, TREX1, RPS27A, DUSP6, APP

Molecular functions related to Inclusion Body Myositis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082018.8MSTN, CXCL11, APP, APOE

Products for genes affiliated with Inclusion Body Myositis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Inclusion Body Myositis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet