Summaries for Myopathy

Sources:
6Disease Ontology, 31NINDS, 44Wikipedia, 22MalaCards
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NINDS: The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows:: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth: characterized by progressive weakness in voluntary muscles; sometimes evident at birth: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases: an inflammatory myopathy of skin and muscle: characterized by bone growing in muscle tissue: characterized by episodes of weakness in the arms and legs: inflammatory myopathies of skeletal muscle: characterized by alternating episodes of twitching and stiffness; and31

MalaCards: Myopathy is related to neuronitis and neuropathy. An important gene associated with Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinsons disease. The compounds wortmannin and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are respiratory system and liver/biliary system.

Disease Ontology: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.6

Wikipedia: In medicine, a myopathy is a muscular disease in which the muscle fibers do not function for any one of...44 more...

Aliases & Descriptions for Myopathy

Sources:
6Disease Ontology, 7diseasecard, 31NINDS, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 24MeSH, 19ICD9CM
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Aliases & Descriptions:

myopathy 6 7 31 8 32 43

Related Diseases for Myopathy

Sources:
13GeneCards, 14GeneDecks
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Diseases related to myopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 1129)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis42.7PIK3R1, PIK3C2A, PIK3C3, NCAM1, RELA, SGCA
2neuropathy41.5PIK3C2A, NCAM1, SGCA, VPS13A, BTD, SELE
3myositis40.9PIK3C2A, NCAM1, VIM, NARS, VCAM1, VCP
4centronuclear myopathy40.7PIK3R4, PIK3C3, NCAM1, MYF6, BIN1, CHKB
5thyroiditis40.3PIK3R1, PIK3C2A, NCAM1, RELA, SELE, SEPW1
6muscular dystrophy39.8PIK3C2A, NCAM1, SGCA, SGCB, SEPN1, LMNA
7inclusion body myopathy39.6NCAM1, RENBP, NAGK, VCP, MYOT, ATP7A
8polymyositis38.3PIK3C2A, NCAM1, SELE, VCAM1, MYBPC1, UTRN
9nemaline myopathy38.2MYOT, TPM1, TPM2, TPM3, TNNT1, ACTA1
10dementia38.1PIK3C2A, NCAM1, CNBP, VCAM1, VCP, CLU
11hypertrophic cardiomyopathy37.7PIK3C2A, COA5, SGCA, SGCB, VDAC1, LMNA
12myopathy congenital36.5SEPN1, MYOG, CHKB, MTM1, ITGA7, DYSF
13anemia36.2NCAM1, RELA, SGCB, SELE, VCAM1, LMNA
14diabetes mellitus36.0PIK3R1, PIK3C2A, SGCB, BTD, SELE, VDAC1
15myofibrillar myopathy35.6SEPN1, CRYAB, RPS27A, SYNC, DES
16bethlem myopathy35.5LAMB1, DMD, COL6A3, COL6A1, COL6A2, COL6A5
17miyoshi myopathy35.3SGCA, MYOF, CHKB, CAPN3, DYSF, DCTN1
18vacuolar myopathy35.1VMA21, LAMP2, MPP2, GUSB, GNE, CAV3
19frontotemporal dementia34.5CNBP, VCP, BAX, MPFD, CDKN3, APOE
20immunodeficiency34.5BLZF1, CD28, CD79A, CD40LG, CD80, CD274
21dermatomyositis34.3PIK3C2A, SELE, VCAM1, MYBPC1, UTRN, SDHB
22lupus erythematosus34.2PIK3C2A, CNBP, SELE, SEPN1, VCAM1, BOK
23cataract33.9SGCB, CNBP, VIM, LMNA, MYOT, BLZF1
24retinitis33.9PIK3C2A, SGCB, CNBP, SELE, VIM, VCAM1
25inclusion body myositis33.8VCAM1, CD80, MME, APP, MAPT, ICAM1
26idiopathic myopathy33.6NARS, CHKB, IL1A, IL1R1, CCL2, CCL5
27limb-girdle muscular dystrophy33.4SGCA, FKRP, CAPN3, DYSF, DMD, TCAP
28systemic lupus erythematosus33.4CNBP, SELE, VCAM1, BLZF1, CLU, LAMB1
29hypotonia33.4COA5, BTD, LMNA, SCO1, MVK, MT-CO1
30mitochondrial encephalomyopathy33.4MT-ND5, MT-CO2, MT-ATP6, MSTN, HSPD1, COX5A
31central core myopathy33.4SEPN1, MYOT, DES, RYR1, NEB, GAA
32congenital fiber-type disproportion33.2SEPN1, CFTDX, INSR, TPM3, ACTA1, RYR1
33ataxia33.2PIK3R1, CNTN1, BTD, SECISBP2, VIM, NARS
34paget's disease of bone33.1VCP, FLNC, IL1B, IL1R1, IL6, IL8
35fibrosis33.1RELA, BTD, SELE, VIM, VDAC1, VCAM1
36myotonic dystrophy32.8PIK3C2A, SGCA, CNBP, VIM, LMNA, MYOG
37malignant hyperthermia32.7PIK3C2A, SEPN1, SCN4A, CHKB, LAMA2, QDPR
38lactic acidosis32.7PIK3C2A, GUSB, APP, MB, HSPG2, ETFDH
39ophthalmoplegia32.5PIK3C2A, SEPN1, MT-RNR2, MTMR14, MT-RNR1, IBM3
40obesity32.3PIK3R1, PIK3C2A, RELA, SELE, VDAC1, VCAM1
41danon disease32.3VMA21, LAMP2, MPP2, DMD, GAA
42pharyngitis32.2VIM, MYPN, MYOT, PABPN1, BCL2, SDHB
43myotonic dystrophy type 232.0CNBP, CLCN1, CHKB, MTMR1, INSR, DMPK
44distal muscular dystrophy32.0RENBP, CHKB, LDB3, MATR3, GNE, DYSF
45becker muscular dystrophy31.9PIK3C2A, NCAM1, SGCA, UTRN, LAMA2, FKTN
46ullrich congenital muscular dystrophy31.8PIK3C2A, SGCA, SEPN1, VIM, LMNA, MYOT
47dysferlinopathy31.6MYOF, GPT, CAPN3, DYSF, OTOF, TCAP
48hepatitis c31.6CD28, CD40LG, IL4, FAS, CCL4, CCR5
49sideroblastic anemia31.4YARS2, MT-CO1, ISCU, SUCLA2, COX5A, PUS1
50pulmonary disease31.4SELE, VCAM1, MYOG, MYOD1, BCL2, SDHB

Graphical network of the top 20 diseases related to myopathy:



Graphical network of diseases related to myopathy

Clinical Features for Myopathy

Drugs & Therapeutics for Myopathy

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myopathy

Anatomical Context for Myopathy

Sources:
22MalaCards
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MalaCards organs/tissues related to myopathy:

22
Brain, Spinal cord, Heart, Smooth muscle, Skeletal muscle, Small intestine, Liver, Lung, Thyroid, Skin, Monocytes, T cells, B cells, Endothelial, Fetal liver, Fetal lung, Fetal thyroid, Pituitary

Phenotypes for genes affiliated with Myopathy

Sources:
25MGI
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MGI Mouse Phenotypes related to myopathy:

25 (show all 28)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1respiratory system phenotypeMP:0005388INFMYOG, MYF6, MYOD1, UTRN, PAX7, LDB3
2liver/biliary system phenotypeMP:0005370INFPIK3C3, UTRN, CHKA, BAG3, , MTM1
3cellular phenotypeMP:0005384INFPIK3R1, PIK3C3, NCAM1, RELA, CNBP, CNTN1
4mortality/agingMP:0010768INFPIK3C2A, PIK3C3, NCAM1, RELA, CNBP, CNTN1
5integument phenotypeMP:0010771INFRELA, BTD, LMX1B, MYOG, BIN1, CLCN1
6muscle phenotypeMP:0005369INFPIK3R1, PIK3C3, RELA, SGCA, SGCB, CNTN1
7endocrine/exocrine gland phenotypeMP:0005379INFPAX7, LAMA2, SBF1, CD40LG, GUSB, GSN
8cardiovascular system phenotypeMP:0005385INFPIK3R1, PIK3C3, RELA, SGCA, SGCB, SELE
9behavior/neurological phenotypeMP:0005386INFPIK3C3, NCAM1, CNTN1, , BTD, SELE
10other phenotypeMP:0005395INFCLU, LAMA2, LAMA5, CD40LG, MME,
11no phenotypic analysisMP:0003012INFPIK3R1, VCAM1, LMX1B, MYF6, MYOD1, MYOT
12limbs/digits/tail phenotypeMP:000537111.1RELA, LMNA, LMX1B, UTRN, CHKB, BAX
13tumorigenesisMP:000200610.8PIK3R1, MYF6, BIN1, PAX7, BCL2, S100A4
14nervous system phenotypeMP:0003631INFRELA, CNBP, CNTN1, , VDAC1, VCP
15embryogenesis phenotypeMP:0005380INFPIK3C3, CNBP, VIM, MYOG, MYF6, PAX7
16skeleton phenotypeMP:0005390INFRELA, CNBP, SEPN1, VCP, LMNA, LMX1B
17immune system phenotypeMP:0005387INFPIK3C3, SGCA, SGCB, VIM, LMNA, BIN1
18renal/urinary system phenotypeMP:0005367INFRENBP, BTD, LMNA, LMX1B, UTRN, CLU
19normal phenotypeMP:0002873INFPIK3R1, PIK3C3, RELA, SELE, SEPN1, NAGK
20adipose tissue phenotypeMP:0005375INFPIK3R1, PIK3C2A, LMNA, MYOG, MYF6, MYOD1
21reproductive system phenotypeMP:0005389INFLMNA, MYOD1, UTRN, BIN1, CLCN1, MTMR2
22vision/eye phenotypeMP:0005391INFNCAM1, RELA, CNBP, CNTN1, BTD, SELE
23hematopoietic system phenotypeMP:0005397INF, BCL2, BAG3, LAIR1, LAMA2, XIAP
24digestive/alimentary phenotypeMP:0005381INFLMNA, PAX7, BCL2, LDB3, LAMA5, MSTN
25craniofacial phenotypeMP:0005382INFCNBP, LMX1B, PAX7, LAMA2, LAMA5, LAMP2
26growth/size phenotypeMP:0005378INFPIK3R1, PIK3C2A, PIK3C3, RELA, SGCB, CNBP
27hearing/vestibular/ear phenotypeMP:0005377INFLMNA, CLCN1, BCL2, , BAX,
28homeostasis/metabolism phenotypeMP:0005376INFPIK3R1, PIK3C2A, PIK3C3, RELA, RENBP, SGCA

Publications for genes affiliated with Myopathy

Sources:
35PubMed
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Articles related to myopathy:

(show top 50)    (show all 1038)
idTitleAuthorsYearAffiliating Genes
1Cytokine gene polymorphisms are associated with marke rs of disease severity and prognosis in patients with idiopathic dilated cardio myopathy. (21282066)Adamopoulos S.... Kremastinos D.T.2011TGFB1, IL6, IFNG
2Identification of a deep intronic mutation in the COL 6A2 gene by a novel custom oligonucleotide CGH array designed to explore alleli c and genetic heterogeneity in collagen VI-related myopathies. (20302629)Bovolenta M.... Gualandi F.2010COL6A2
3Myosin storage myopathy: a rare subtype of protein a ggregate myopathies (20376763)Kiphuth I.C.... SchrAPder R.2010MYH7
4Novel missense mutation p.A310P in the GNE gene in au tosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimme d vacuoles in an Italian family. (20346669)Stober A.... Krause S.2010GNE
5Thin filament length dysregulation contributes to mus cle weakness in nemaline myopathy patients with nebulin deficiency. (19346529)Ottenheijm C.A.... Granzier H.2009NEB
6A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. (19122038)Bitoun M.... Romero N.B.2009DNM2
7The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients. (18821667)Chinoy H.... Cooper R.G.2008PTPN22
8Atypical Parkinsonism in distal myopathy with rimmed vacuoles. (18383535)Ishihara T.... Nishizawa M.2008GNE
9Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? (18646567)Malicdan M.C.... Nishino I.2007GNE
10Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases (17785089)Ren S.C.... Li D.N.2007DYSF
11MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. (17336526)Pegoraro E.... Angelini C.2007MYH7
12C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. (17444505)Carmignac V.... Ferreiro A.2007TTN
13A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (17164266)Malicdan M.C.... Nishino I.2007GNE
14A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (17704511)Malicdan M.C.... Nishino I.2007GNE
15Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. (16427282)Hutchinson D.O.... North K.N.2006ACTA1
16Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. (16891820)Cho H.J.... Kim J.W.2006DYSF
17Apoptosis in mitochondrial myopathies is linked to mi tochondrial proliferation. (16537564)AurAc K.... LombA"s A.2006COX5A
18Serum creatine kinase response to exercise during dexamethasone-induced insulin resistance in Quarter Horses with polysaccharide storage myopathy. (16273902)Firshman A.M.... Seaquist E.R.2005INS, CHKB
19Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. (15676110)Nonaka I.... Nishino I.2005GNE
20Low myopathy rates associated with statins as monotherapy or combination therapy with interacting drugs in a group model health maintenance organization. (15843281)Shanahan R.L.... Merenich J.A.2005CYP3A4
21Expression of the beta chemokines CCL3, CCL4, CCL5 and their receptors in idiopathic inflammatory myopathies. (15634233)Civatte M.... Figarella-Branger D.2005CCR5, CCL5, CCR1
22SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. (15829503)Pele M.... Panthier J.J.2005MTM1
23Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy. (16112887)Gottlieb E.... Huizing M.2005DAG1
24A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy. (14659412)Moslemi A.R.... Oldfors A.2004MT-TF
25Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. (14733965)Marston S.... Sewry C.2004ACTA1
26Progressive myopathy with circulating autoantibody against giantin in the Golgi apparatus. (15159505)Sahashi K.... Kondo H.2004GOLGB1
27The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. (12975303)Hedera P.... Fink J.K.2003PABPN1
28Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. (12839838)Sotgia F.... Lisanti M.P.2003CAV3
29A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. (14684695)Jakkula E.... Superti-Furga A.2003COMP
30Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. (12609507)Dalakas M.C.... Goldfarb L.G.2003DES
31Differences in idiopathic inflammatory myopathy phenotypes and genotypes between Mesoamerican Mestizos and North American Caucasians: ethnogeographic influences in the genetics and clinical expression of myositis. (12124873)Shamim E.A.... Miller F.W.2002HLA-DQB1, HLA-DRB1
32Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. (11932968)Vanegas O.C.... Pepe G.2002COL6A1
33Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (12473753)Nishino I.... Nonaka I.2002GNE
34Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. (11053684)Kerst B.... Huebner C.2000MYF6
35Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. (10717012)Dalakas M.C.... Goldfarb L.G.2000DES
36Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM. (10665666)Sun C.... Tranebjaerg L.1999DMPK, CLCN1
37Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. (10446808)Banwell B.L.... Engel A.G.1999PLEC
38Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. (10508519)Nowak K.J.... North K.N.1999ACTA1
39Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. (10417791)Inose M.... Osame M.1999DMD, CAV3, SPTB
40Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism. (9848719)Rodolico C.... Vita G.1998DES
41Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy. (9845295)Marbini A.... Margarito F.1998DNAH8
42Study of myopathies by histological and histochemical methods with special reference to staining for desmin expression. (9354004)Bhattacheryya A.... Sinha S.1997DES
43Myopathy caused by inhibitors of hydroxymethylglutaryl-coenzyme A reductase (9244616)Martinez-GarcA-a F.A.... FernA!ndez-Barreiro A.1997HMGCR
44Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. (8782832)Joebsis G.J.... Bohlhuis P.A.1996COL6A1, COL6A2, COL6A3
45Familial desmin myopathies and cytoplasmic body myopathies. (8922062)Baeta A.M.... Pellissier J.F.1996DES
46Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. (7849699)Poulton J.... Hansen F.J.1994VDAC1, TFAM
47Quadriceps myopathy as dystrophin-associated myopathy (8211039)von Mitzlaff H.C.... Burgunder J.M.1993DMD
48Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies. (1517767)Figarella-Branger D.... Pellissier J.F.1992DES, NCAM1
49Two cases of X-linked ichthyosis associated with myopathies (2253421)Ishikawa Y.... Minami R.1990STS
50Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome). (2193159)Carter N.D.... Jeffery S.1990DMD

Expression for genes affiliated with Myopathy

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Myopathy

Pathways for genes affiliated with Myopathy

Sources:
38Reactome, 20KEGG, 36QIAGEN
See all sources

Pathways related to myopathy according to GeneDecks:

(show top 50)    (show all 196)
idPathwayScoreTop Affiliating Genes
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.38INFMT-ND5, , , MT-CO1, MT-CO2,
2Parkinsons disease20INFVDAC1, SDHB, MT-ND5, , , MT-CO1
3Transendothelial Migration of Leukocytes3612.7PIK3R4, PIK3R1, VCAM1, LAMA2, LAMA5, LAMB1
4Striated Muscle Contraction3812.7MYBPC1, TPM1, TPM2, TPM3, TNNI2, TNNI3
5Viral myocarditis2012.6SGCA, SGCB, LAMA2, CD28, CD86, CD40LG
6Dilated cardiomyopathy2012.6SGCA, SGCB, LMNA, LAMA2, ITGA4, ITGA7
7Hypertrophic cardiomyopathy (HCM)2012.4SGCA, SGCB, LMNA, LAMA2, ITGA4, ITGA7
8Allograft rejection2012.3CD28, CD86, CD40LG, CD80, CD40, GZMB
9Rheumatoid arthritis2012.2ATP6V0E1, CD28, CD86, CD80, ITGAL, ITGB2
10Akt Signaling3612.2PIK3R4, PIK3R1, CD28, CD80, ITGA7, ITGAL
11Type I diabetes mellitus2012.2CD28, CD86, CD80, GZMB, INS, IL1A
12Cell adhesion molecules (CAMs)2012.2NCAM1, CNTN1, CD28, CD86, CD80, CD40
13Antioxidant Action of Vitamin-C3612.1BCL2, BAX, CD28, CD80, FLNC, IL13
14Leishmaniasis2012.1RELA, ITGA4, ITGB2, FCGR3A, IL1A, IL1B
15ERK Signaling3612.1PIK3R4, PIK3R1, LAMA2, LAMA5, LAMB1, CD80
16Tec Kinases Signaling3612.0PIK3R4, PIK3R1, BCL2, BAX, CD28, CD80
17Autoimmune thyroid disease2012.0CD28, CD86, CD40LG, CD80, CD40, GZMB
18Graft-versus-host disease2011.9CD28, CD86, CD80, IL1A, HLA-A, HLA-B
19Influenza A2011.8PIK3R1, RELA, VDAC1, PABPN1, IL1A, IL1B
20ILK Signaling3611.8PIK3R4, PIK3R1, VIM, LAMA2, LAMA5, LAMB1
21Rho Family GTPases3611.6PIK3R4, PIK3R1, VIM, BCL2, BAX, LAMA2
22PGC1Alpha Pathway3611.5BCL2, BAX, CD80, INSR, IL13, IL1A
23STAT3 Pathway3611.5BCL2, BAX, CD28, CD80, IL13, IL1A
24p38 Signaling3611.4BCL2, BAX, CD28, CD80, INSR, IL13
25Toxoplasmosis2011.4PIK3R1, RELA, BCL2, LAMA2, LAMA5, LAMB1
26Intestinal immune network for IgA production2011.4CD28, CD86, CD40LG, CD80, CD40, ITGA4
27Cytokine-cytokine receptor interaction2011.2CD40LG, CD40, IL13, IL17A, IL1A, IL1B
28MAPK Signaling3611.1PIK3R4, PIK3R1, BCL2, LAMA2, LAMA5, LAMB1
29Endothelin-1 Signaling Pathway3611.1PIK3R4, PIK3R1, CD80, INSR, IL13, IL1A
30MIF Mediated Glucocorticoid Regulation3611.0BCL2, BAX, CD80, MIF, IL13, IL1A
31PTEN Pathway3611.0PIK3R4, PIK3R1, LAMA2, LAMA5, LAMB1, ITGA4
32MIF Regulation of Innate Immune Cells3611.0BCL2, BAX, CD80, MIF, IL13, IL1A
33Tuberculosis2011.0PIK3C3, RELA, BCL2, BAX, LAMP2, ITGB2
34Apoptosis2010.9PIK3R1, RELA, BCL2, BAX, XIAP, IL1A
35JAK-STAT Pathway3610.9PIK3R4, PIK3R1, BAX, CD80, INSR, IL13
36Molecular Mechanisms of Cancer3610.9PIK3R4, PIK3R1, BCL2, BAX, LAMA2, CD80
37PEDF Induced Signaling3610.9RELA, BCL2, BAX, CD80, IL13, IL1A
38Toll-like receptor signaling pathway2010.9PIK3R1, RELA, CD86, CD80, CD40, IL1B
39Natural killer cell mediated cytotoxicity2010.9PIK3R1, ITGAL, ITGB2, GZMB, FCGR3A, FAS
40Focal adhesion2010.8PIK3R1, BCL2, LAMA2, LAMA5, LAMB1, XIAP
41Malaria2010.8SELE, VCAM1, CD40LG, CD40, ITGAL, ITGB2
42PAK Pathway3610.8PIK3R4, PIK3R1, BCL2, BAX, CFL2, CD80
43Regulation of eIF4 and p70S6K3610.6PIK3R4, PIK3R1, BAX, CD80, ITGA4, ITGA7
44MAPK Family Pathway3610.4PIK3R4, PIK3R1, BCL2, BAX, CD80, IL13
45TGF-Beta Pathway3610.4PIK3R4, PIK3R1, BCL2, BAX, CD80, IL13
46IL-6 Pathway3610.3PIK3R4, PIK3R1, BAX, CD80, IL4, IL8
47Oxidative phosphorylation20INFSDHB, MT-ND5, , , MT-CO1, MT-CO2
48Metabolic pathways20INFPIK3C2A, PIK3C3, BTD, SDHB, CKMT2, CHKA
49Huntingtons disease20INFSDHB, BAX, MT-CO1, MT-CO2, , MT-CO3
50Alzheimers disease20INFSDHB, MT-CO1, MT-CO2, , MT-CO3, MT-CYB

Compounds for genes affiliated with Myopathy

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB, 34PharmGKB
See all sources

Compounds related to myopathy according to GeneDecks:

(show top 50)    (show all 449)
idCompoundScoreTop Affiliating Genes
1wortmannin32 42 INFPIK3R4, PIK3R1, PIK3C2A, PIK3C3, SGCB, VIM
2cholesterol32 9 18 9 INFPIK3R1, PIK3C2A, CNBP, SELE, VCAM1, LMNA
3estrogen32 INFPIK3R1, MYOG, MYOD1, BIN1, CLU, CHKA
4vegf32 INFPIK3R1, PIK3C2A, NCAM1, SGCB, SELE, VCAM1
5threonine32 INFMYOD1, SCN4A, MT-ND5, , MT-CYB, QDPR
6serine32 INFPIK3R1, NCAM1, RELA, RENBP, SGCB, BTD
7glucose 6-phosphate32 18 INFVDAC1, CLU, SDHB, CHKA, CHKB, GYS1
8ethanol32 34 9 18 9 16.8NCAM1, CLU, SDHB, CHKA, ITGAL, ITGB2
9sodium32 18 13.4PIK3C2A, NCAM1, SGCB, BLZF1, CLCN1, SCN4A
10aspartate32 12.1PIK3R1, PIK3C2A, VIM, SDHB, CHKB, MT-CYB
11butyrate32 12.0VIM, MYOG, MYOD1, BLZF1, CLU, BCL2
12pge232 12.0SGCB, SELE, VCAM1, MT-CO2, CD86, MME
13endotoxin32 12.0CHKB, CD86, CD40, ITGAL, ITGB2, MIF
14fmlp32 11.8VIM, VCAM1, MT-CYB, ITGA4, ITGAL, ITGB2
15sodium nitroprusside32 11.7PIK3C2A, SGCB, CD40, MME, IL13, APP
16ionomycin32 11.7CD274, CD40, GZMA, GSN, ANXA1, CCL4
17peroxynitrite32 11.4SGCB, CKMT2, CHKB, MB, CCL3, CAT
18lactacystin32 11.3SELE, MYOD1, BCL2, CDKN3, AR, INSR
19fenofibrate32 9 9 13.2PIK3C2A, SELE, VIM, VCAM1, CD40LG, CD40
20isoproterenol32 9 9 13.1PIK3R1, VIM, MYBPC1, ITGAL, AR, INSR
21il 1032 11.1CD40, IL13, IL1A, IL1B, IL1R1, IL1RAPL2
22hyaluronic acid32 18 12.0VIM, MUC16, CFH, ITGAL, ITGB2, GZMB
23sp 60012532 42 11.9VCAM1, CD40, IL13, IL17A, CASP3
24cyclophosphamide32 34 9 9 13.9ITGA4, ITGAL, ITGB2, MBL2, DCK, NPPB
25etoposide32 42 9 9 13.7PIK3R1, SELE, CLU, BCL2, BAX, XIAP
26c2ceramide32 10.5MYOG, BAX, IL1B, HSPB1, CASP3, GH1
27rosiglitazone32 9 18 9 13.5SELE, VCAM1, LMNA, INS, INSR, IL1R1
28pd 98,05932 10.4PIK3R1, VCAM1, MYOG, BCL2, BAX, XIAP
294-hydroxynonenal32 18 11.1CHKA, BAX, MME, GUSB, APOE, APP
30formaldehyde32 18 INFSELE, VIM, BLZF1, CD79A, CD40LG, CDKN3
31ascorbic acid32 18 INFSGCB, MYOG, SDHB, CHKA, CHKB, MT-CYB
32progesterone32 42 9 18 9 INFPIK3R1, NCAM1, BOK, CLU, BCL2, CHKA
33proline32 INFPIK3R1, VIM, CLU, , ,
34ribonucleic acid32 INFMYOG, BLZF1, CLU, , MT-CO1, MSTN
35superoxide32 18 INFPIK3R1, PIK3C2A, SGCB, VCAM1, VCP, BLZF1
36h2o232 INFPIK3R1, SGCB, VDAC1, BLZF1, CLU, SDHB
37thymidine32 18 INFPIK3R1, VDAC1, BOK, CLU, CHKA, CHKB
38prostacyclin32 INFPIK3C2A, SELE, VCAM1, MME, INSR, IL1A
39dopamine32 9 18 9 INFNCAM1, SELE, LMX1B, CLU, SDHB, CHKB
40polysaccharide32 INFNCAM1, SELE, VDAC1, VCAM1, VCP, CLU
41methionine32 INFVIM, VDAC1, SCN4A, MT-ND5, ,
42indomethacin32 9 9 INFVIM, CD79A, CD40LG, CDKN3, CD40, ITGB2
43carnitine32 INFCHKA, CHKB, CD79A, INS, MB, AMPD1
44ly29400232 INFPIK3R1, PIK3C2A, SELE, MYOG, CDKN3, ITGB2
45fatty acid32 INFPIK3C2A, BTD, MYOG, MYOD1, BLZF1, CLU
46genistein32 9 18 9 INFPIK3R1, SGCB, SELE, VIM, VCAM1, BLZF1
47iron32 18 INFPIK3C2A, SGCB, VIM, VDAC1, BLZF1, SDHB
48retinoic acid32 42 18 INFNCAM1, VIM, VCAM1, BOK, LMNA, MYOG
49valine32 INFVIM, SCN4A, MT-ND5, , AR, INSR
50lipid32 INFPIK3R1, PIK3C2A, PIK3C3, NCAM1, SELE, VIM

GO Terms for genes affiliated with Myopathy

Sources:
12Gene Ontology
See all sources

Cellular components related to myopathy according to GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:005743INFTAZ, ACADVL, NDUFV1, , NDUFS4,
2cytoplasmGO:005737INFNOS1, PLEK, PLEC, CRYAB, SNCA, SNTB2
3plasma membraneGO:00588616.0DAG1, DMPK, PTPRC, PTP4A2, DOK7, DTNA
4cell surfaceGO:00998612.6NGFR, CRYAB, SPTB, CYP3A4, DMD, TNFRSF4
5external side of plasma membraneGO:00989712.6CXCR4, NCAM1, VCAM1, LILRB1, CD28, CD79A
6sarcolemmaGO:04238312.4DAG1, SNTA1, SNTB1, PLEC, NOS1, COL6A3
7integral to lumenal side of endoplasmic reticulum membraneGO:07155611.4HLA-G, HLA-DRB1, HLA-DQB1, HLA-DQA1, HLA-DPB1, HLA-C
8I bandGO:03167411.4MYL3, CACNA1S, RYR1, TTN, ACTC1, CASQ1
9ER to Golgi transport vesicle membraneGO:01250711.4HLA-G, HLA-DRB1, HLA-DQB1, HLA-DQA1, HLA-DPB1, HLA-C
10dystrophin-associated glycoprotein complexGO:01601011.1SNTB2, SNTB1, DAG1, DMD, CAV3, FKRP
11troponin complexGO:00586111.1TNNT3, TNNT2, TNNT1, TNNI3, TNNI2
12muscle myosin complexGO:00585911.1MYL4, MYL3, MYH7, MYH6, MYH2, MYL6B
13MHC class II protein complexGO:04261311.0HLA-DMA, HLA-DMB, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1
14extracellular matrixGO:03101210.9COL6A2, COL6A5, COL6A6, THBS1, TGFB2, DCN
15mitochondrial nucleoidGO:04264510.8HADHB, HADHA, POLG2, POLG, TFAM, ACADVL
16myofibrilGO:03001610.8MYL2, MYH6, MYH3, MYH2, CAPN3, MYOD1
17platelet alpha granule lumenGO:03109310.3HGF, TGFB2, TGFB1, THBS1, ALDOA, ALB
18axonGO:03042410.1SNCA, TGFB1, TGFB2, STAT1, NEK3, GAP43
19mitochondrial membraneGO:031966INF, ACADL, , PRKCA, OGDH,
20sarcoplasmic reticulumGO:016529INFCACNA1S, RYR1, , AGL, NOS1, PYGM
21mitochondrial matrixGO:005759INFACADL, ACADVL, TK2, TFAM, DGUOK, OGDH
22Z discGO:030018INFMYPN, DNAJB6, TCAP, SYNC, , SYNPO2
23extracellular spaceGO:005615INFLAMA5, IL1A, IL1B, IL1RN, IL4, IL6
24mitochondrionGO:005739INFCOX10, ACADVL, GFER, TGM2, TFAM, DNM3
25extracellular regionGO:005576INFCTSS, CTSL1, SNCA, PLEK, NOTCH3, COL4A1
26cytosolGO:005829INFAP1G1, AMPD1, AMPD3, ALDH9A1, ALDOA, GNE
27sarcomereGO:030017INFMYL3, MYL2, MYH7, MYH6, MYH2,
28actin cytoskeletonGO:015629INFSPTB, SNCA, PDLIM3, ACTA1, SYNPO2,
29protein complexGO:043234INFSNTB2, COL6A1, COL6A2, ORAI1, PRKCZ, PRKCA

Biological processes related to myopathy according to GeneDecks:

(show top 50)    (show all 67)
idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:044281INFATP5E, QDPR, MTM1, MTMR6, MTMR14, MTMR4
2glucose metabolic processGO:006006INFGYS1, MDH2, ENO3, TPI1, GAA, TNF
3mitochondrial respiratory chain complex I assemblyGO:032981INFTAZ, , NDUFAF6, , NDUFAF5,
4respiratory electron transport chainGO:022904INF, COX5A, , NDUFV1, ETFDH, ETFB
5muscle contractionGO:00693613.1MYH6, MYH7, MYH2, CACNA1S, SNTB1, CRYAB
6immune responseGO:00695512.9HLA-DQA1, HLA-DMB, HLA-DMA, HLA-C, HLA-B, HLA-DQB1
7muscle filament slidingGO:03004912.9TPM2, TPM1, MYL6B, MYBPC1, VIM, TPM3
8cytokine-mediated signaling pathwayGO:01922112.3RPS27A, CCL2, STAT1, IL1A, HLA-G, HLA-DRB1
9cell adhesionGO:00715512.3TNXB, COL6A3, COMP, COL6A1, COL6A5, COL6A6
10interferon-gamma-mediated signaling pathwayGO:06033312.1IFNG, IFI30, VCAM1, NCAM1, ICAM1, HLA-A
11phospholipid metabolic processGO:00664412.0PIK3R1, GPD1, PIK3C2A, PIK3C3, CHKA, MTMR2
12regulation of immune responseGO:05077611.9IGKC, HLA-B, HLA-G, HLA-A, ICAM1, IL4
13anti-apoptosisGO:00691611.7TNFRSF10D, SNCA, CRYAB, RPS27A, COMP, NGF
14innate immune responseGO:04508711.7IGKC, IFNA2, IGHG2, IGHG1, RPS27A, BCL2
15striated muscle contractionGO:00694111.6TTN, CACNA1S, RYR3, PGAM2, NOS1, MYH6
16T cell receptor signaling pathwayGO:05085211.6NFKBIA, IKBKG, HLA-DPB1, HLA-DQA1, PTPRC, NFKB1
17ventricular cardiac muscle tissue morphogenesisGO:05501011.5MYH6, TPM1, TNNI3, TNNT2, GAA, MYH7
18T cell costimulationGO:03129511.5CD86, HLA-DQA1, CD80, CD274, HLA-DQB1, HLA-DPB1
19cellular calcium ion homeostasisGO:00687411.4RYR3, PRKCA, TGFB1, DMPK, CCL2, CCR1
20phosphatidylinositol biosynthetic processGO:00666111.3MTMR14, MTMR3, MTMR6, MTMR4, MTMR1, MTMR2
21virus-host interactionGO:01904811.3PABPN1, CD80, CD86, BAX, BIN1, VDAC1
22skeletal muscle tissue developmentGO:00751911.3MYOG, TGFB2, MYL3, TAZ, DCN, MYF6
23leukocyte cell-cell adhesionGO:00715911.3CCL5, PTPRC, VCAM1, ICAM1, CD40LG, ITGA4
24positive regulation of T cell proliferationGO:04210211.2CCL5, IFNG, CCL19, PTPRC, CD28, VCAM1
25positive regulation of NF-kappaB transcription factor activityGO:05109211.2TNF, RPS27A, NFKB1, PRKCZ, PRKCH, TGFB1
26positive regulation of apoptotic processGO:04306511.2ANXA1, GZMA, IL1B, APC, FAS, SOD1
27cardiac muscle contractionGO:06004811.2MYL4, TNNI3, ACTC1, TCAP, TAZ, GAA
28agingGO:00756811.2DCN, FAS, VCAM1, GSN, IL1B, ENO3
29neutrophil chemotaxisGO:03059311.1CCL3, ITGB2, IL1B, CKLF, IFNG, TGFB2
30dendritic cell chemotaxisGO:00240711.1CCR5, CCL21, CCR1, CXCR4, CCL5, CCL19
31muscle cell homeostasisGO:04671611.0GAA, ALDOA, SOD1, APC, PFKM, CAPN3
32sarcomere organizationGO:04521411.0TCAP, MYPN, XIRP1, CAPN3, TPM1, TTN
33defense response to virusGO:05160710.9LILRB1, CXCL10, BCL2, CD86, CD40, IL6
34lipopolysaccharide-mediated signaling pathwayGO:03166310.8CCL2, CCL3, NFKBIA, STAT1, TNF, TGFB1
35cell surface receptor signaling pathwayGO:00716610.8CXCL10, CD28, NPPB, IFNA2, IFNG, HRAS
36cell-cell signalingGO:00726710.8IL13, IL17A, CCL4, CCR5, CCR1, CD86
37platelet degranulationGO:00257610.5TGFB2, TTN, THBS1, TGFB1, SOD1, HGF
38B cell proliferationGO:04210010.5HSPD1, BCL2, CD79A, PTPRC, CD40LG, CD40
39positive regulation of smooth muscle cell proliferationGO:04866110.3STAT1, TGM2, NOTCH3, IL13, IL6, CCL5
40platelet activationGO:03016810.2CD40LG, CLU, CD40, LAMP2, IL6, PRKCA
41glycolysisGO:006096INFENO3, OGDH, ALDOA, DLAT, PFKM,
42muscle organ developmentGO:007517INFDMD, MYL4, MYH3, GAA, EMD, NEB
43negative regulation of apoptotic processGO:043066INFTNF, CAPN3, HSPD1, IL6, IL4, IL1RN
44apoptotic processGO:006915INFACTC1, COMP, NGF, NGFR, NFKB1, NFKBIA
45response to glucocorticoid stimulusGO:051384INFIL1B, IL1RN, INSR, TNF, IL6, FAS
46response to organic cyclic compoundGO:014070INFIL1RN, PRKCA, STS, , CYP17A1, ICAM1
47response to drugGO:042493INFCASP1, IL4, BCL2, IFNG, ICAM1, TNF
48response to hypoxiaGO:001666INFTNF, VCAM1, CRYAB, CCL2, RYR1, NPPB
49inflammatory responseGO:006954INFCCR5, IL1A, IL1B, IL6, AOC3, ANXA1
50blood coagulationGO:007596INFPLEK, HRAS, ALDOA, ALB, PRKCA, IFNA2

Molecular functions related to myopathy according to GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:042802INFTNF, PTS, SNCA, NFKBIA, PFKL, PFKM
2actin bindingGO:003779INFMYH7, MYH6, MYH3, MYH2, EMD, NEB
3structural constituent of muscleGO:00830712.3MYL4, MYOT, MYL6B, MYBPC1, ASPH, CAPN3
4protein tyrosine phosphatase activityGO:00472511.8CDKN3, DUSP13, PTPN22, PTPLA, PTPMT1, PTPRC
5receptor bindingGO:00510211.4HLA-B, HLA-G, TRDN, TNFSF13B, CRAT, TGFB2
6cytokine activityGO:00512510.9CCL4, IFNA2, IFNG, HMGB1, TNF, TNFSF13B
7chemokine activityGO:00800910.5CXCL10, CCL5, CCL19, CCL21, CCL3, CCL2
8protease bindingGO:00202010.3RYR1, POLG, TTN, C10orf2, TNF, IL1R1
9calcium ion bindingGO:005509INFTHBD, TTN, ABP1, COMP, NOTCH3, SNCA
10protein bindingGO:005515INFEMD, , DES, SYNPO2, SYNM,
11protein homodimerization activityGO:042803INFTGFB1, ABP1, NFKB1, PLEK, CRYAB, PTS
12enzyme bindingGO:019899INFNOTCH3, NFKBIA, TTN, TGFB1, DNM2, STAT1
13calmodulin bindingGO:005516INFRYR1, RYR3, GAP43, MYH2, MYH3, MYH6

Sources for Myopathy

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS