DMD
MCID: DCH001
MIFTS: 77

Duchenne Muscular Dystrophy (DMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases categories

Summaries for Duchenne Muscular Dystrophy

About this section


OMIM:46 Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker... (310200) more...

MalaCards based summary: Duchenne Muscular Dystrophy, also known as muscular dystrophy, duchenne, is related to muscular dystrophy and becker muscular dystrophy, and has symptoms including muscular hypotonia, intellectual disability, mild and hyporeflexia. An important gene associated with Duchenne Muscular Dystrophy is DMD (dystrophin), and among its related pathways are Non-integrin membrane-ECM interactions and Mitochondrial LC-Fatty Acid Beta-Oxidation. The compounds hind iii and ecori have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related mouse phenotypes are muscle and behavior/neurological.

Disease Ontology:9 A muscular dystrophy that has material basis in x-linked disease caused by mutations in the dmd gene found on the x chromosome. it is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. it affects males whereas females can be carriers. the symptoms start before the age of six and may appear at infancy.

NIH Rare Diseases:42 Duchenne muscular dystrophy (dmd) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. it is caused by a mutation in a gene, called the dmd gene, which encodes the muscle protein dystrophin. boys with duchenne muscular dystrophy do not make the dystrophin protein in their muscles. duchenne mucular dystrophy is inherited in an x-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. individuals who have dmd have progressive loss of muscle function and weakness, which begins in the lower limbs. in addition to the skeletal muscles used for movement, dmd may also affect the muscles of the heart.  there is no known cure for duchenne muscular dystrophy. treatment is aimed at control of symptoms to maximize the quality of life. last updated: 1/8/2009

Wikipedia:64 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1... more...

Aliases & Classifications for Duchenne Muscular Dystrophy

About this section
Sources:
31LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 46OMIM, 11DISEASES, 48Orphanet, 21GeneTests, 23GTR, 61UMLS, 44Novoseek, 56SNOMED-CT, 34MeSH, 28ICD9CM, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Duchenne Muscular Dystrophy, Aliases & Descriptions:

Name: Duchenne Muscular Dystrophy 31 9 10 42 46 11 48
Muscular Dystrophy, Duchenne 9 42 21 23 61
Dmd 42 48
 
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 42
Severe Dystrophinopathy, Duchenne Type 48
Muscular Dystrophy Duchenne 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult


External Ids:

Disease Ontology9 DOID:11723
OMIM46 310200
MeSH34 D020388
ICD9CM28 359.1
NCIt39 C75482
MESH via Orphanet35 D020388
ICD10 via Orphanet27 G71.0
UMLS via Orphanet62 C0013264

Related Diseases for Duchenne Muscular Dystrophy

About this section

Diseases related to Duchenne Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.1GK, DAG1, CHKB, MSTN, OTC, DMD
2becker muscular dystrophy31.5DMD, GK
3aland island eye disease31.3GK
4mental retardation31.1DMD, OTC, GK
5chronic granulomatous disease31.1OTC, DMD
6neuromuscular disease31.1DMD, MSTN, CHKB
7dystrophinopathies31.1DMD
8limb-girdle muscular dystrophy31.0CHKB, DMD
9walker-warburg syndrome30.9DMD, DAG1
10gas gangrene30.9DMD
11myotonic dystrophy30.9DMD, CHKB
12hyperglycerolemia30.8GK, DMD
13distal muscular dystrophy30.8DMD, CHKB
14neuropathy30.6DMD, MSTN, DAG1
15myositis30.5DMD, CHKB, MSTN
16myopathy30.4DMD, MSTN, CHKB, DAG1, GK
17polymyositis30.4CHKB, DMD
18muscular dystrophy, duchenne and becker types10.8
19blindness10.7
20spinal muscular atrophy10.6
21muscular atrophy10.6
22dysphagia10.5
23dilated cardiomyopathy10.5
24neuronitis10.5
25cerebritis10.5
26ischemia10.5
27retinitis10.5
28pulmonary function10.5
29muscular dystrophy-dystroglycanopathy , type a, 410.5DMD
30amyotrophic lateral sclerosis10.4
31nephrolithiasis10.4
32retinitis pigmentosa10.4
33lateral sclerosis10.4
34congenital stationary night blindness10.4
35eye disease10.4
36night blindness10.4
37rhabdomyosarcoma10.4
38hemophilia10.4
39macroglossia10.4
40endotheliitis10.4
41muscular dystrophy-dystroglycanopathy , type a, 110.4DAG1, DMD
42x-linked adrenal hypoplasia congenita10.3GK, DMD
43glycogen storage disease10.3DMD, OTC
44spiradenoma10.3OTC, GK
45myopathy congenital10.2DMD, CHKB
46centronuclear myopathy10.2
47fukuyama congenital muscular dystrophy10.2
48bethlem myopathy10.2
49attention deficit hyperactivity disorder10.2
50cerebral palsy10.2

Graphical network of the top 20 diseases related to Duchenne Muscular Dystrophy:



Diseases related to duchenne muscular dystrophy

Symptoms for Duchenne Muscular Dystrophy

About this section

Symptoms by clinical synopsis from OMIM:

310200

Clinical features from OMIM:

310200

HPO human phenotypes related to Duchenne Muscular Dystrophy:

(show all 18)
id Description Frequency HPO Source Accession
1 muscular hypotonia HP:0001252
2 intellectual disability, mild HP:0001256
3 hyporeflexia HP:0001265
4 flexion contracture HP:0001371
5 x-linked recessive inheritance HP:0001419
6 congestive heart failure HP:0001635
7 dilated cardiomyopathy HP:0001644
8 waddling gait HP:0002515
9 scoliosis HP:0002650
10 hypoventilation HP:0002791
11 respiratory failure HP:0002878
12 elevated serum creatine phosphokinase HP:0003236
13 hyperlordosis HP:0003307
14 gowers sign HP:0003391
15 muscular dystrophy HP:0003560
16 calf muscle pseudohypertrophy HP:0003707
17 childhood onset HP:0011463
18 arrhythmia HP:0011675

Drugs & Therapeutics for Duchenne Muscular Dystrophy

About this section

Drug clinical trials:

Search ClinicalTrials for Duchenne Muscular Dystrophy

Search NIH Clinical Center for Duchenne Muscular Dystrophy

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Duchenne Muscular Dystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Duchenne Muscular Dystrophy

About this section

Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy21 23

Anatomical Context for Duchenne Muscular Dystrophy

About this section

MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

32
Skeletal muscle, Heart, Smooth muscle, Bone, Testes, Eye, Brain, Lung, Bone marrow, Skin, T cells, Endothelial, Cortex, Retina, Spinal cord, Liver, Monocytes

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Duchenne Muscular Dystrophy:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Duchenne Muscular Dystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0LTBP4, MSTN, CHKB, DMD, DAG1
2MP:00053867.6LTBP4, DAG1, DMD, GK, CHKB, MSTN

Publications for Duchenne Muscular Dystrophy

About this section

Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 766)
idTitleAuthorsYear
1
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. (25307856)
2014
2
Evaluation of neural damage in Duchenne muscular dystrophy patients. (25291916)
2014
3
Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy. (23021433)
2013
4
Reply to: Anaesthetic management in patients with Duchenne muscular dystrophy. (23446277)
2013
5
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
6
Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India. (23914114)
2013
7
Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up. (23783200)
2013
8
Cardiac phenotype of Duchenne Muscular Dystrophy: insights from cellular studies. (23261966)
2013
9
Surgery for scoliosis in Duchenne muscular dystrophy. (23450561)
2013
10
Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy. (23863142)
2013
11
Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents. (23552961)
2013
12
Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers. (23870371)
2013
13
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. (23909763)
2013
14
Independent living with Duchenne muscular dystrophy and home mechanical ventilation in areas of Japan with insufficient national welfare services. (23981723)
2013
15
Sarcospan: a small protein with large potential for Duchenne muscular dystrophy. (23282144)
2013
16
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. (22425491)
2012
17
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. (22713125)
2012
18
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. (22655510)
2012
19
microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. (22546853)
2012
20
Proliferative retinopathy in Duchenne muscular dystrophy and its response to bevacizumab. (22594924)
2012
21
The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. (22655512)
2012
22
MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy. (22980762)
2012
23
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. (21632191)
2012
24
Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. (21482750)
2011
25
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (20978473)
2011
26
Impending therapies for Duchenne muscular dystrophy. (21892079)
2011
27
miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. (21212803)
2011
28
Predicting the severity of Duchenne muscular dystrophy: implications for treatment. (21178098)
2011
29
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. (20395141)
2010
30
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. (20517938)
2010
31
Elaboration and reliability of functional evaluation on going up and downstairs scale for Duchenne Muscular Dystrophy. (21340247)
2010
32
Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. (21179598)
2010
33
Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy. (20730876)
2010
34
A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. (19158079)
2009
35
Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. (19358679)
2009
36
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. (19713152)
2009
37
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. (19416897)
2009
38
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
39
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
2007
40
Menstrual blood-derived cells confer human dystrophin expression in the murine model of Duchenne muscular dystrophy via cell fusion and myogenic transdifferentiation. (17314403)
2007
41
Allogeneic umbilical cord blood stem cell transplantation in Duchenne muscular dystrophy]. (15949330)
2005
42
Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients. (15111323)
2004
43
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. (11087833)
2000
44
Hypercoagulable state in Duchenne muscular dystrophy]. (9294322)
1997
45
Cystic fibrosis, Duchenne muscular dystrophy and preimplantation genetic diagnosis. (9111186)
1996
46
Octreotide enhances positive calcium balance in Duchenne muscular dystrophy. (7668311)
1995
47
Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. (8469343)
1993
48
Pathogenesis of Duchenne muscular dystrophy: the calcium hypothesis revisited. (1497954)
1992
49
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. (1877622)
1991
50
Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous. (2668885)
1989

Variations for Duchenne Muscular Dystrophy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Duchenne Muscular Dystrophy:

63
id Symbol AA change Variation ID SNP ID
1DMDp.Leu54ArgVAR_005147
2DMDp.Lys773GluVAR_005154
3DMDp.Asp645GlyVAR_023541
4DMDp.Cys3313PheVAR_023545
5DMDp.Asp3335HisVAR_023546
6DMDp.Cys3340TyrVAR_023547

Clinvar genetic disease variations for Duchenne Muscular Dystrophy:

7 (show all 60)
id Gene Name Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs128625226GRCh37Chr X, 32472913: 32472913
2DMDNM_004006.2(DMD): c.2791G> T (p.Glu931Ter)single nucleotide variantPathogenicrs128625227GRCh37Chr X, 32503048: 32503048
3DMDNM_004006.2(DMD): c.5551C> T (p.Gln1851Ter)single nucleotide variantPathogenicrs128625228GRCh37Chr X, 32364095: 32364095
4DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)single nucleotide variantPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
5DMDDMD, IVS68, T-A, +2single nucleotide variantPathogenic
6DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)single nucleotide variantPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
7DMDDMD, EX73-76DELdeletionPathogenic
8DMDDMD, 1-BP DEL, 10662TdeletionPathogenic
9DMDDMD, 1-BP INS, EX12insertionPathogenic
10DMDDMD, AG-T, EX48undetermined variantPathogenic
11DMDDMD, EX21DELdeletionPathogenic
12DMDDMD, EX18DELdeletionPathogenic
13DMDNM_004006.2(DMD): c.6955C> T (p.Gln2319Ter)single nucleotide variantPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
14DMDNM_004006.2(DMD): c.253C> T (p.Gln85Ter)single nucleotide variantPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
15DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)single nucleotide variantPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
16DMDDMD, 1-BP DEL, 2568CdeletionPathogenic
17DMDNM_004006.2(DMD): c.2314G> T (p.Glu772Ter)single nucleotide variantPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
18DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
19DMDNM_004006.2(DMD): c.161T> G (p.Leu54Arg)single nucleotide variantPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
20DMDDMD, IVS26, T-G, +2single nucleotide variantPathogenic
21DMDDMD, 1-BP DEL, 724CdeletionPathogenic
22DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)single nucleotide variantPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
23DMDDMD, 1-BP DEL, 10334C AND IVS69, G-T, +1deletionPathogenic
24DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
25DMDDMD, 1-BP INS, 402AinsertionPathogenic
26DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
27DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
28DMDDMD, 11-BP DEL, NT989deletionPathogenic
29DMDDMD, 1-BP INS, NT1554insertionPathogenic
30DMDNM_004006.2(DMD): c.1489C> T (p.Gln497Ter)single nucleotide variantPathogenicrs128626241GRCh37Chr X, 32613987: 32613987
31DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)single nucleotide variantPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
32DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)single nucleotide variantPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
33DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)single nucleotide variantPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
34DMDDMD, 52-BP DELdeletionPathogenic
35DMDDMD, 1-BP INS, NT2928insertionPathogenic
36DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)single nucleotide variantPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
37DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)single nucleotide variantPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
38DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)single nucleotide variantPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
39DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)single nucleotide variantPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
40DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
41DMDDMD, 1-BP DEL, 6408CdeletionPathogenic
42DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)single nucleotide variantPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
43DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)single nucleotide variantPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
44DMDDMD, 17-BP DEL, NT6982deletionPathogenic
45DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)single nucleotide variantPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
46DMDDMD, 1-BP INS, 7188AinsertionPathogenic
47DMDDMD, IVS47, G-A, +1, EX48DELdeletionPathogenic
48DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)single nucleotide variantPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
49DMDNM_004006.2(DMD): c.8729A> T (p.Glu2910Val)single nucleotide variantPathogenicrs41305353GRCh37Chr X, 31496431: 31496431
50DMDNM_004006.2(DMD): c.8734A> G (p.Asn2912Asp)single nucleotide variantPathogenicrs1800278GRCh37Chr X, 31496426: 31496426
51DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)single nucleotide variantPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
52DMDDMD, 4-BP DEL, NT9679deletionPathogenic
53DMDDMD, IVS65, G-A, +1single nucleotide variantPathogenic
54DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)single nucleotide variantPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
55DMDDMD, IVS70, G-T, +5single nucleotide variantPathogenic
56DMDDMD, 8-BP DEL, 1-BP INS, NT10692indelPathogenic
57DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)single nucleotide variantPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
58DMDDMD, 1-BP DEL, 377AdeletionPathogenic
59DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)single nucleotide variantPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
60DMDNM_004006.2(DMD): c.5985T> G (p.Tyr1995Ter)single nucleotide variantPathogenicrs128627257GRCh37Chr X, 32328331: 32328331

Expression for genes affiliated with Duchenne Muscular Dystrophy

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets, 31LifeMap Discovery®
See all sources
LifeMap Discovery
Genes differentially expressed in tissues of Duchenne Muscular Dystrophy patients vs. healthy controls: 31 (show all 293)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+5.620.000
2COL1A2collagen, type I, alpha 2Skeletal Muscle+4.060.000
3COL1A1collagen, type I, alpha 1Skeletal Muscle+4.060.000
4COL3A1collagen, type III, alpha 1Skeletal Muscle+3.840.000
5MYH8myosin, heavy chain 8, skeletal muscle, perinatalSkeletal Muscle+3.740.000
6DCLK1doublecortin-like kinase 1Skeletal Muscle+3.560.000
7ASPNasporinSkeletal Muscle+3.170.000
8SPP1secreted phosphoprotein 1Skeletal Muscle+3.170.000
9NNMTnicotinamide N-methyltransferaseSkeletal Muscle+3.030.000
10LYZlysozymeSkeletal Muscle+3.020.000
11LUMlumicanSkeletal Muscle+3.000.000
12AQP4aquaporin 4Skeletal Muscle-2.980.000
13CCDC80coiled-coil domain containing 80Skeletal Muscle+2.830.000
14COL5A2collagen, type V, alpha 2Skeletal Muscle+2.730.000
15FRZBfrizzled-related proteinSkeletal Muscle+2.720.000
16MXRA5matrix-remodelling associated 5Skeletal Muscle+2.650.000
17CD44CD44 molecule (Indian blood group)Skeletal Muscle+2.610.000
18TUBB6tubulin, beta 6 class VSkeletal Muscle+2.580.000
19TIMP1TIMP metallopeptidase inhibitor 1Skeletal Muscle+2.540.000
20CHRNA1cholinergic receptor, nicotinic, alpha 1 (muscle)Skeletal Muscle+2.460.000
21ACTC1actin, alpha, cardiac muscle 1Skeletal Muscle+2.460.000
22SRPXsushi-repeat containing protein, X-linkedSkeletal Muscle+2.430.000
23S100A4S100 calcium binding protein A4Skeletal Muscle+2.400.000
24MYL5myosin, light chain 5, regulatorySkeletal Muscle+2.390.000
25VCANversicanSkeletal Muscle+2.380.000
26GJA1gap junction protein, alpha 1, 43kDaSkeletal Muscle+2.380.000
27MESTmesoderm specific transcriptSkeletal Muscle+2.380.000
28PLA2G2Aphospholipase A2, group IIA (platelets, synovial fluid)Skeletal Muscle+2.380.000
29SAT1spermidine/spermine N1-acetyltransferase 1Skeletal Muscle+2.360.000
30SH3BGRLSH3 domain binding glutamate-rich protein likeSkeletal Muscle+2.350.000
31HLA-DRAmajor histocompatibility complex, class II, DR alphaSkeletal Muscle+2.350.000
32EFEMP1EGF containing fibulin-like extracellular matrix protein 1Skeletal Muscle+2.320.000
33PRUNE2prune homolog 2 (Drosophila)Skeletal Muscle+2.310.000
34TUBA1Atubulin, alpha 1aSkeletal Muscle+2.300.000
35IGF2insulin-like growth factor 2 (somatomedin A)Skeletal Muscle+2.300.000
36OGNosteoglycinSkeletal Muscle+2.300.000
37IFI16interferon, gamma-inducible protein 16Skeletal Muscle+2.290.000
38HLA-DPA1major histocompatibility complex, class II, DP alpha 1Skeletal Muscle+2.260.000
39CFHcomplement factor HSkeletal Muscle+2.240.000
40COL6A2collagen, type VI, alpha 2Skeletal Muscle+2.240.000
41MARCKSmyristoylated alanine-rich protein kinase C substrateSkeletal Muscle+2.230.000
42TUBB2Atubulin, beta 2A class IIaSkeletal Muscle+2.220.000
43LRRC17leucine rich repeat containing 17Skeletal Muscle+2.210.000
44CLIC4chloride intracellular channel 4Skeletal Muscle+2.200.000
45POSTNperiostin, osteoblast specific factorSkeletal Muscle+2.200.000
46COL5A1collagen, type V, alpha 1Skeletal Muscle+2.190.000
47KCTD12potassium channel tetramerization domain containing 12Skeletal Muscle+2.170.000
48MGPmatrix Gla proteinSkeletal Muscle+2.170.000
49ANXA1annexin A1Skeletal Muscle+2.170.000
50ABI3BPABI family, member 3 (NESH) binding proteinSkeletal Muscle+2.160.000
51NESnestinSkeletal Muscle+2.160.000
52C3complement component 3Skeletal Muscle+2.150.000
53HLA-DPB1major histocompatibility complex, class II, DP beta 1Skeletal Muscle+2.140.000
54TCEAL7transcription elongation factor A (SII)-like 7Skeletal Muscle+2.130.000
55SPARCsecreted protein, acidic, cysteine-rich (osteonectin)Skeletal Muscle+2.130.000
56COL6A3collagen, type VI, alpha 3Skeletal Muscle+2.120.000
57COL14A1collagen, type XIV, alpha 1Skeletal Muscle+2.120.000
58WWTR1WW domain containing transcription regulator 1Skeletal Muscle+2.110.000
59CAPN6calpain 6Skeletal Muscle+2.110.000
60TYROBPTYRO protein tyrosine kinase binding proteinSkeletal Muscle+2.090.000
61H19H19, imprinted maternally expressed transcript (non-protein coding)Skeletal Muscle+2.090.000
62CTHRC1collagen triple helix repeat containing 1Skeletal Muscle+2.060.000
63DMDdystrophinSkeletal Muscle-2.060.000
64FGL2fibrinogen-like 2Skeletal Muscle+2.040.000
65MYOFmyoferlinSkeletal Muscle+2.030.000
66DAB2Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)Skeletal Muscle+2.020.000
67ARHGAP36Rho GTPase activating protein 36Skeletal Muscle+2.020.000
68ANTXR1anthrax toxin receptor 1Skeletal Muscle+2.020.000
69IGF1insulin-like growth factor 1 (somatomedin C)Skeletal Muscle+2.020.000
70SAMD4Asterile alpha motif domain containing 4ASkeletal Muscle-2.020.000
71LAMB1laminin, beta 1Skeletal Muscle+2.010.000
72PPIBpeptidylprolyl isomerase B (cyclophilin B)Skeletal Muscle+2.000.000
73CHRDL1chordin-like 1Skeletal Muscle+1.990.000
74MRC1mannose receptor, C type 1Skeletal Muscle+1.980.000
75PENKproenkephalinSkeletal Muscle+1.960.000
76DPTdermatopontinSkeletal Muscle+1.960.000
77CXCL14chemokine (C-X-C motif) ligand 14Skeletal Muscle+1.960.000
78PLAGL1pleiomorphic adenoma gene-like 1Skeletal Muscle+1.950.000
79S100A11S100 calcium binding protein A11Skeletal Muscle+1.940.000
80C1Rcomplement component 1, r subcomponentSkeletal Muscle+1.940.000
81GADD45Agrowth arrest and DNA-damage-inducible, alphaSkeletal Muscle+1.930.000
82SFRP4secreted frizzled-related protein 4Skeletal Muscle+1.930.000
83C1Scomplement component 1, s subcomponentSkeletal Muscle+1.910.000
84ACTN3actinin, alpha 3Skeletal Muscle-1.910.000
85SERPINE2serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2Skeletal Muscle+1.890.000
86LAPTM5lysosomal protein transmembrane 5Skeletal Muscle+1.870.000
87CA2carbonic anhydrase IISkeletal Muscle-1.870.000
88ACTN1actinin, alpha 1Skeletal Muscle+1.870.000
89IGFBP4insulin-like growth factor binding protein 4Skeletal Muscle+1.850.000
90ZFP36L2ZFP36 ring finger protein-like 2Skeletal Muscle+1.850.000
91FBLN1fibulin 1Skeletal Muscle+1.830.000
92MPEG1macrophage expressed 1Skeletal Muscle+1.810.000
93GPNMBglycoprotein (transmembrane) nmbSkeletal Muscle+1.810.000
94CMYA5cardiomyopathy associated 5Skeletal Muscle-1.810.000
95CDH11cadherin 11, type 2, OB-cadherin (osteoblast)Skeletal Muscle+1.800.000
96TIMP2TIMP metallopeptidase inhibitor 2Skeletal Muscle+1.800.000
97ABCA8ATP-binding cassette, sub-family A (ABC1), member 8Skeletal Muscle+1.800.000
98CALD1caldesmon 1Skeletal Muscle+1.800.000
99BTG1B-cell translocation gene 1, anti-proliferativeSkeletal Muscle+1.800.000
100COLEC12collectin sub-family member 12Skeletal Muscle+1.790.000
101CCND2cyclin D2Skeletal Muscle+1.780.000
102HLA-DMAmajor histocompatibility complex, class II, DM alphaSkeletal Muscle+1.770.000
103CRISPLD1cysteine-rich secretory protein LCCL domain containing 1Skeletal Muscle+1.770.000
104C1QCcomplement component 1, q subcomponent, C chainSkeletal Muscle+1.770.000
105LIPAlipase A, lysosomal acid, cholesterol esteraseSkeletal Muscle+1.770.000
106SOX4SRY (sex determining region Y)-box 4Skeletal Muscle+1.770.000
107LHFPlipoma HMGIC fusion partnerSkeletal Muscle+1.770.000
108OLFML2Bolfactomedin-like 2BSkeletal Muscle+1.770.000
109NPNTnephronectinSkeletal Muscle+1.770.000
110PPP1R3Aprotein phosphatase 1, regulatory subunit 3ASkeletal Muscle-1.760.000
111FBXO40F-box protein 40Skeletal Muscle-1.760.000
112PTGFRNprostaglandin F2 receptor inhibitorSkeletal Muscle+1.760.000
113HTRA1HtrA serine peptidase 1Skeletal Muscle+1.750.000
114S100A6S100 calcium binding protein A6Skeletal Muscle+1.750.000
115ELK3ELK3, ETS-domain protein (SRF accessory protein 2)Skeletal Muscle+1.750.000
116EMP1epithelial membrane protein 1Skeletal Muscle+1.740.000
117FBN1fibrillin 1Skeletal Muscle+1.730.000
118SPIN1spindlin 1Skeletal Muscle+1.730.000
119HLA-DRB1major histocompatibility complex, class II, DR beta 1Skeletal Muscle+1.720.000
120S100A10S100 calcium binding protein A10Skeletal Muscle+1.720.000
121RGS2regulator of G-protein signaling 2, 24kDaSkeletal Muscle+1.720.000
122TGFBR2transforming growth factor, beta receptor II (70/80kDa)Skeletal Muscle+1.710.000
123LGMNlegumainSkeletal Muscle+1.710.000
124PREPLprolyl endopeptidase-likeSkeletal Muscle+1.700.000
125IGFBP3insulin-like growth factor binding protein 3Skeletal Muscle+1.690.000
126CD14CD14 moleculeSkeletal Muscle+1.690.000
127MYBPHmyosin binding protein HSkeletal Muscle+1.680.000
128PDGFRAplatelet-derived growth factor receptor, alpha polypeptideSkeletal Muscle+1.680.000
129SERPING1serpin peptidase inhibitor, clade G (C1 inhibitor), member 1Skeletal Muscle+1.680.000
130ATP6AP2ATPase, H+ transporting, lysosomal accessory protein 2Skeletal Muscle+1.680.000
131ADD3adducin 3 (gamma)Skeletal Muscle+1.670.000
132LOXL1lysyl oxidase-like 1Skeletal Muscle+1.670.000
133SRGNserglycinSkeletal Muscle+1.670.000
134CILPcartilage intermediate layer protein, nucleotide pyrophosphohydrolaseSkeletal Muscle+1.670.000
135COL6A1collagen, type VI, alpha 1Skeletal Muscle+1.670.000
136THBS4thrombospondin 4Skeletal Muscle+1.670.000
137LAMA4laminin, alpha 4Skeletal Muscle+1.670.000
138FSTL1follistatin-like 1Skeletal Muscle+1.670.000
139MAN1A1mannosidase, alpha, class 1A, member 1Skeletal Muscle+1.670.000
140UGCGUDP-glucose ceramide glucosyltransferaseSkeletal Muscle+1.660.000
141LGALS3BPlectin, galactoside-binding, soluble, 3 binding proteinSkeletal Muscle+1.660.000
142HNMThistamine N-methyltransferaseSkeletal Muscle+1.660.000
143RAPH1Ras association (RalGDS/AF-6) and pleckstrin homology domains 1Skeletal Muscle+1.660.000
144SESN3sestrin 3Skeletal Muscle+1.660.000
145COL4A1collagen, type IV, alpha 1Skeletal Muscle+1.660.000
146CXCL12chemokine (C-X-C motif) ligand 12Skeletal Muscle+1.660.000
147HLA-DQB1major histocompatibility complex, class II, DQ beta 1Skeletal Muscle+1.650.000
148RPL3ribosomal protein L3Skeletal Muscle+1.650.000
149COL15A1collagen, type XV, alpha 1Skeletal Muscle+1.650.000
150MS4A6Amembrane-spanning 4-domains, subfamily A, member 6ASkeletal Muscle+1.650.000
151NTRK2neurotrophic tyrosine kinase, receptor, type 2Skeletal Muscle+1.640.000
152COL4A2collagen, type IV, alpha 2Skeletal Muscle+1.640.000
153VIMvimentinSkeletal Muscle+1.640.000
154CNN3calponin 3, acidicSkeletal Muscle+1.640.000
155PCOLCEprocollagen C-endopeptidase enhancerSkeletal Muscle+1.640.000
156NIPSNAP3Anipsnap homolog 3A (C. elegans)Skeletal Muscle+1.640.000
157ITM2Aintegral membrane protein 2ASkeletal Muscle+1.640.000
158RBM3RNA binding motif (RNP1, RRM) protein 3Skeletal Muscle+1.630.000
159TMSB10thymosin beta 10Skeletal Muscle+1.620.000
160BGNbiglycanSkeletal Muscle+1.620.000
161CD163CD163 moleculeSkeletal Muscle+1.610.000
162SNX7sorting nexin 7Skeletal Muscle+1.610.000
163ZFP36L1ZFP36 ring finger protein-like 1Skeletal Muscle+1.610.000
164UCP2uncoupling protein 2 (mitochondrial, proton carrier)Skeletal Muscle+1.600.000
165PLSCR4phospholipid scramblase 4Skeletal Muscle+1.600.000
166SYTL2synaptotagmin-like 2Skeletal Muscle+1.600.000
167NID1nidogen 1Skeletal Muscle+1.590.000
168NID2nidogen 2 (osteonidogen)Skeletal Muscle+1.590.000
169COL6A6collagen, type VI, alpha 6Skeletal Muscle+1.590.000
170DPYSL2dihydropyrimidinase-like 2Skeletal Muscle+1.590.000
171FN1fibronectin 1Skeletal Muscle+1.590.000
172ASS1argininosuccinate synthase 1Skeletal Muscle+1.580.000
173ZYG11Bzyg-11 family member B, cell cycle regulatorSkeletal Muscle-1.580.000
174CALRcalreticulinSkeletal Muscle+1.580.000
175MIR1245AmicroRNA 1245aSkeletal Muscle+1.580.000
176ADIRFadipogenesis regulatory factorSkeletal Muscle+1.570.000
177TGFBItransforming growth factor, beta-induced, 68kDaSkeletal Muscle+1.570.000
178HIF1Ahypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)Skeletal Muscle+1.570.000
179MN1meningioma (disrupted in balanced translocation) 1Skeletal Muscle-1.570.000
180TNCtenascin CSkeletal Muscle+1.560.000
181F13A1coagulation factor XIII, A1 polypeptideSkeletal Muscle+1.560.000
182CD74CD74 molecule, major histocompatibility complex, class II invariant chainSkeletal Muscle+1.550.000
183PHLDB2pleckstrin homology-like domain, family B, member 2Skeletal Muscle+1.550.000
184CTSKcathepsin KSkeletal Muscle+1.550.000
185DCNdecorinSkeletal Muscle+1.550.000
186CD302CD302 moleculeSkeletal Muscle+1.540.000
187MLLT11myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11Skeletal Muscle+1.540.000
188PERPPERP, TP53 apoptosis effectorSkeletal Muscle+1.540.000
189RAB31RAB31, member RAS oncogene familySkeletal Muscle+1.540.000
190IGFBP7insulin-like growth factor binding protein 7Skeletal Muscle+1.540.000
191ANXA2annexin A2Skeletal Muscle+1.530.000
192ELOVL5ELOVL fatty acid elongase 5Skeletal Muscle+1.530.000
193FBP2fructose-1,6-bisphosphatase 2Skeletal Muscle-1.530.000
194CAP1CAP, adenylate cyclase-associated protein 1 (yeast)Skeletal Muscle+1.530.000
195SNAI2snail family zinc finger 2Skeletal Muscle+1.530.000
196EMP3epithelial membrane protein 3Skeletal Muscle+1.520.000
197TNNT2troponin T type 2 (cardiac)Skeletal Muscle+1.520.000
198ART3ADP-ribosyltransferase 3Skeletal Muscle-1.510.000
199PROS1protein S (alpha)Skeletal Muscle+1.510.000
200AHNAK2AHNAK nucleoprotein 2Skeletal Muscle+1.500.000
201MEGF10multiple EGF-like-domains 10Skeletal Muscle+1.500.000
202SYNE3spectrin repeat containing, nuclear envelope family member 3Skeletal Muscle+1.500.000
203FKBP5FK506 binding protein 5Skeletal Muscle-1.500.000
204PHTF2putative homeodomain transcription factor 2Skeletal Muscle-1.500.000
205TRIM22tripartite motif containing 22Skeletal Muscle+1.500.000
206OSBPL8oxysterol binding protein-like 8Skeletal Muscle+1.490.000
207CYBRD1cytochrome b reductase 1Skeletal Muscle+1.490.000
208C1QAcomplement component 1, q subcomponent, A chainSkeletal Muscle+1.490.000
209UCP3uncoupling protein 3 (mitochondrial, proton carrier)Skeletal Muscle-1.480.000
210CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1Skeletal Muscle+1.480.000
211WBP5WW domain binding protein 5Skeletal Muscle+1.470.000
212MMP2matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)Skeletal Muscle+1.470.000
213LY96lymphocyte antigen 96Skeletal Muscle+1.460.000
214ASB2ankyrin repeat and SOCS box containing 2Skeletal Muscle-1.420.000
215G0S2G0/G1switch 2Skeletal Muscle-1.420.000
216FBXO3F-box protein 3Skeletal Muscle-1.410.000
217PEBP4phosphatidylethanolamine-binding protein 4Skeletal Muscle-1.380.000
218SRRM2serine/arginine repetitive matrix 2Skeletal Muscle-1.370.000
219RPL3Lribosomal protein L3-likeSkeletal Muscle-1.370.000
220SLC47A1solute carrier family 47 (multidrug and toxin extrusion), member 1Skeletal Muscle-1.360.000
221OR7E47Polfactory receptor, family 7, subfamily E, member 47 pseudogeneSkeletal Muscle-1.340.000
222ADCK3aarF domain containing kinase 3Skeletal Muscle-1.330.000
223HBBhemoglobin, betaSkeletal Muscle-1.330.000
224NRAPnebulin-related anchoring proteinSkeletal Muscle-1.320.000
225NANOS1nanos homolog 1 (Drosophila)Skeletal Muscle-1.310.000
226HIST1H1Chistone cluster 1, H1cSkeletal Muscle-1.310.000
227CMBLcarboxymethylenebutenolidase homolog (Pseudomonas)Skeletal Muscle-1.300.000
228INADLInaD-like (Drosophila)Skeletal Muscle-1.300.000
229GMPRguanosine monophosphate reductaseSkeletal Muscle-1.270.000
230ASB8ankyrin repeat and SOCS box containing 8Skeletal Muscle-1.270.000
231ATP1A2ATPase, Na+/K+ transporting, alpha 2 polypeptideSkeletal Muscle-1.260.000
232C8orf22chromosome 8 open reading frame 22Skeletal Muscle-1.260.000
233PDP1pyruvate dehyrogenase phosphatase catalytic subunit 1Skeletal Muscle-1.250.000
234TSPAN8tetraspanin 8Skeletal Muscle-1.240.000
235FHL3four and a half LIM domains 3Skeletal Muscle-1.240.000
236MAP4microtubule-associated protein 4Skeletal Muscle-1.230.000
237PHKA1phosphorylase kinase, alpha 1 (muscle)Skeletal Muscle-1.230.000
238LRRC2leucine rich repeat containing 2Skeletal Muscle-1.220.000
239USO1USO1 vesicle transport factorSkeletal Muscle-1.220.000
240KCNS3potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3Skeletal Muscle-1.210.000
241KIAA1161KIAA1161Skeletal Muscle-1.210.000
242SLC7A2solute carrier family 7 (cationic amino acid transporter, y+ system), member 2Skeletal Muscle-1.210.000
243ADSSL1adenylosuccinate synthase like 1Skeletal Muscle-1.200.000
244PGAM2phosphoglycerate mutase 2 (muscle)Skeletal Muscle-1.200.000
245NDUFS1NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)Skeletal Muscle-1.190.000
246MSS51MSS51 mitochondrial translational activatorSkeletal Muscle-1.180.000
247NXPE3neurexophilin and PC-esterase domain family, member 3Skeletal Muscle-1.180.000
248ITGB6integrin, beta 6Skeletal Muscle-1.180.000
249RNF157ring finger protein 157Skeletal Muscle-1.170.000
250FRMD3FERM domain containing 3Skeletal Muscle-1.150.000
251SSPNsarcospanSkeletal Muscle-1.140.000
252DNAJB5DnaJ (Hsp40) homolog, subfamily B, member 5Skeletal Muscle-1.130.000
253SAR1Bsecretion associated, Ras related GTPase 1BSkeletal Muscle-1.120.000
254SLC25A30solute carrier family 25, member 30Skeletal Muscle-1.120.000
255PHKG1phosphorylase kinase, gamma 1 (muscle)Skeletal Muscle-1.120.000
256PTPN3protein tyrosine phosphatase, non-receptor type 3Skeletal Muscle-1.110.000
257FBXO32F-box protein 32Skeletal Muscle-1.110.000
258NOS1nitric oxide synthase 1 (neuronal)Skeletal Muscle-1.110.000
259TMEM52transmembrane protein 52Skeletal Muscle-1.100.000
260MBNL1-AS1MBNL1 antisense RNA 1Skeletal Muscle-1.100.000
261SYNPOsynaptopodinSkeletal Muscle-1.090.000
262TARSL2threonyl-tRNA synthetase-like 2Skeletal Muscle-1.090.000
263GAMTguanidinoacetate N-methyltransferaseSkeletal Muscle-1.080.000
264PPP1R16Aprotein phosphatase 1, regulatory subunit 16ASkeletal Muscle-1.080.000
265DHRS7Cdehydrogenase/reductase (SDR family) member 7CSkeletal Muscle-1.070.000
266LPIN1lipin 1Skeletal Muscle-1.070.000
267AGMATagmatine ureohydrolase (agmatinase)Skeletal Muscle-1.060.000
268GPD1glycerol-3-phosphate dehydrogenase 1 (soluble)Skeletal Muscle-1.060.000
269C20orf166chromosome 20 open reading frame 166Skeletal Muscle-1.050.000
270IMPA2inositol(myo)-1(or 4)-monophosphatase 2Skeletal Muscle-1.050.000
271DEPTORDEP domain containing MTOR-interacting proteinSkeletal Muscle-1.050.000
272PTP4A1protein tyrosine phosphatase type IVA, member 1Skeletal Muscle-1.040.000
273MLF1myeloid leukemia factor 1Skeletal Muscle-1.040.000
274DUSP3dual specificity phosphatase 3Skeletal Muscle-1.030.000
275KCNJ12potassium inwardly-rectifying channel, subfamily J, member 12Skeletal Muscle-1.030.000
276MYLK2myosin light chain kinase 2Skeletal Muscle-1.030.000
277SLC16A3solute carrier family 16 (monocarboxylate transporter), member 3Skeletal Muscle-1.030.000
278CD38CD38 moleculeSkeletal Muscle-1.030.000
279MLECmalectinSkeletal Muscle-1.030.000
280HECTD1HECT domain containing E3 ubiquitin protein ligase 1Skeletal Muscle-1.030.000
281LONRF2LON peptidase N-terminal domain and ring finger 2Skeletal Muscle-1.020.000
282RAD23ARAD23 homolog A (S. cerevisiae)Skeletal Muscle-1.020.000
283SLC1A4solute carrier family 1 (glutamate/neutral amino acid transporter), member 4Skeletal Muscle-1.020.000
284PHKBphosphorylase kinase, betaSkeletal Muscle-1.020.000
285MYBPC2myosin binding protein C, fast typeSkeletal Muscle-1.020.000
286SLC19A2solute carrier family 19 (thiamine transporter), member 2Skeletal Muscle-1.010.000
287MBPmyelin basic proteinSkeletal Muscle-1.010.000
288GPR157G protein-coupled receptor 157Skeletal Muscle-1.010.000
289ZBTB44zinc finger and BTB domain containing 44Skeletal Muscle-1.010.000
290UBE2D1ubiquitin-conjugating enzyme E2D 1Skeletal Muscle-1.000.000
291LGR5leucine-rich repeat containing G protein-coupled receptor 5Skeletal Muscle-1.000.000
292CLIC5chloride intracellular channel 5Skeletal Muscle-1.000.000
293NR4A1nuclear receptor subfamily 4, group A, member 1Skeletal Muscle-1.000.000

Expression patterns in normal tissues for genes affiliated with Duchenne Muscular Dystrophy

Search GEO for disease gene expression data for Duchenne Muscular Dystrophy.

Pathways for genes affiliated with Duchenne Muscular Dystrophy

About this section

Pathways related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteogylcan syndecan-mediated signaling events37
10.0DAG1, DMD
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
9.8CHKB, GK
3
Show member pathways
9.7DAG1, DMD, LTBP4
49.6C1QC, C1QB
5
Show member pathways
9.4DAG1, DMD, SNTB1
69.4DAG1, DMD, SNTB1

Compounds for genes affiliated with Duchenne Muscular Dystrophy

About this section
Sources:
44Novoseek, 25HMDB, 50PharmGKB, 12DrugBank
See all sources

Compounds related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1hind iii4410.1OTC, DMD
2ecori4410.0DMD, OTC
3ornithine44 2511.0OTC, CHKB, DMD
4tositumomab50 1211.0C1QB, C1QC
5ibritumomab50 1210.9C1QC, C1QB
6succinate449.9DMD, GK, CHKB
7alefacept44 1210.9C1QC, C1QB
8bevacizumab50 1210.9C1QB, C1QC
9urea44 25 1211.9OTC, CHKB, DMD
10efalizumab44 1210.9C1QC, C1QB
11daclizumab44 1210.9C1QB, C1QC
12basiliximab44 1210.9C1QC, C1QB
13natalizumab44 1210.8C1QB, C1QC
14alemtuzumab44 1210.8C1QB, C1QC
15gemtuzumab ozogamicin50 44 1211.8C1QC, C1QB
16adalimumab44 50 1211.7C1QC, C1QB
17glycerol44 25 1211.7OTC, CHKB, GK, DMD
18abciximab44 1210.6CHKB, C1QC, C1QB
19etanercept44 50 1211.6C1QC, C1QB
20creatinine449.5OTC, CHKB, GK, DMD
21pyruvate449.4OTC, CHKB, GK
22cetuximab44 50 1211.3C1QC, C1QB
23glucose449.2DMD, GK, CHKB, MSTN, OTC
24sodium44 2510.1OTC, SNTB2, SNTB1, DMD
25calcium44 50 25 1211.0SNTB2, SNTB1, CHKB, C1QC, C1QB, DMD

GO Terms for genes affiliated with Duchenne Muscular Dystrophy

About this section

Cellular components related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1syntrophin complexGO:01601310.0SNTG2, DMD
2filopodiumGO:03017510.0DAG1, DMD
3costamereGO:0430349.9DMD, DAG1
4sarcolemmaGO:0423839.2SNTG2, SNTB1, DMD, DAG1
5cytoskeletonGO:0058569.1SNTG2, DAG1, DMD, SNTB1
6dystrophin-associated glycoprotein complexGO:0160109.0SNTB1, DAG1, DMD, SNTB2
7protein complexGO:0432348.8SNTB1, SNTB2, DMD

Biological processes related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.7LTBP4, DMD, DAG1
2complement activationGO:0069569.5C1QC, C1QB
3complement activation, classical pathwayGO:0069589.3C1QC, C1QB

Molecular functions related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00830710.0DMD, DAG1
2dystroglycan bindingGO:0021629.9DAG1, DMD
3vinculin bindingGO:0171669.7DMD, DAG1
4actin bindingGO:0037798.5SNTB2, SNTG2, SNTB1, DMD, DAG1

Products for genes affiliated with Duchenne Muscular Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Duchenne Muscular Dystrophy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet