MCID: DCH001
MIFTS: 80

Duchenne Muscular Dystrophy malady

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

Summaries for Duchenne Muscular Dystrophy

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OMIM:47 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 gait disturbance, myopathy and amyotrophy. 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:10 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:43 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

Genetics Home Reference:23 Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.

Wikipedia:65 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1... more...

Aliases & Classifications for Duchenne Muscular Dystrophy

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Sources:
47OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 29ICD9CM, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Duchenne Muscular Dystrophy, Aliases & Descriptions:

Name: Duchenne Muscular Dystrophy 47 32 10 11 43 12 49
Muscular Dystrophy, Duchenne 10 43 22 62
Duchenne and Becker Muscular Dystrophy 43 23
Muscular Dystrophy Duchenne 45 24
Dmd 43 49
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 43
Severe Dystrophinopathy, Duchenne and Becker Type 43
 
Muscular Dystrophy, Duchenne and Becker Types 23
Muscular Dystrophy, Pseudohypertrophic 23
Severe Dystrophinopathy, Duchenne Type 49
Duchenne/becker Muscular Dystrophy 23
Muscular Dystrophy, Duchenne Type 47
Dbmd 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: Childhood; Age of death: young Adult


External Ids:

OMIM47 310200
Disease Ontology10 DOID:11723
MeSH35 D020388
NCIt40 C75482
ICD9CM29 359.1
Orphanet49 98896
MESH via Orphanet36 D020388
ICD10 via Orphanet28 G71.0
UMLS via Orphanet63 C0013264

Related Diseases for Duchenne Muscular Dystrophy

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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 dystrophy32.4DAG1, DMD, GK, CHKB, MSTN, OTC
2becker muscular dystrophy31.2DMD, GK
3neuromuscular disease31.0MSTN, CHKB, DMD
4glycerol kinase deficiency31.0GK, DMD
5mental retardation30.9DMD, GK, OTC
6myotonic dystrophy30.7DMD, CHKB
7myopathy30.7DAG1, DMD, GK, CHKB, MSTN
8aland island eye disease30.6GK
9chronic granulomatous disease30.6DMD, OTC
10dystrophinopathies30.4DMD
11distal muscular dystrophy30.4CHKB, DMD
12walker-warburg syndrome30.4DMD, DAG1
13adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism30.4DMD, GK
14limb-girdle muscular dystrophy30.4CHKB, DMD
15neuropathy30.4DAG1, DMD, MSTN
16myositis30.3DMD, CHKB, MSTN
17polymyositis30.3CHKB, DMD
18gas gangrene30.2DMD
19blindness10.7
20scoliosis10.7
21muscular dystrophy, duchenne and becker types10.6
22spinal muscular atrophy10.6
23muscular atrophy10.6
24cardiomyopathy, dilated, 3b10.6
25dilated cardiomyopathy10.5
26ischemia10.5
27dysphagia10.5
28familial dilated cardiomyopathy10.5
29pulmonary function10.5
30neuronitis10.5
31cerebritis10.5
32retinitis10.5
33nondystrophic myotonia10.4
34nephrolithiasis10.4
35retinitis pigmentosa10.4
36lateral sclerosis10.4
37congenital stationary night blindness10.4
38eye disease10.4
39night blindness10.4
40rhabdomyosarcoma10.4
41hemophilia10.4
42macroglossia10.4
43endotheliitis10.4
44bethlem myopathy10.2
45medulloblastoma10.2
46ichthyosis vulgaris10.2
47muscle hypertrophy10.2
48achondroplasia10.2
49attention deficit-hyperactivity disorder10.2
50osteoporosis10.2

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



Diseases related to duchenne muscular dystrophy

Symptoms for Duchenne Muscular Dystrophy

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Symptoms by clinical synopsis from OMIM:

310200

Clinical features from OMIM:

310200

HPO human phenotypes related to Duchenne Muscular Dystrophy:

(show all 30)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 myopathy hallmark (90%) HP:0003198
3 amyotrophy hallmark (90%) HP:0003202
4 emg abnormality hallmark (90%) HP:0003457
5 limitation of joint mobility typical (50%) HP:0001376
6 hypertrophic cardiomyopathy typical (50%) HP:0001639
7 scoliosis typical (50%) HP:0002650
8 slender long bone typical (50%) HP:0003100
9 hyperlordosis typical (50%) HP:0003307
10 reduced bone mineral density typical (50%) HP:0004349
11 developmental regression occasional (7.5%) HP:0002376
12 cognitive impairment occasional (7.5%) HP:0100543
13 muscular hypotonia HP:0001252
14 intellectual disability, mild HP:0001256
15 hyporeflexia HP:0001265
16 flexion contracture HP:0001371
17 x-linked recessive inheritance HP:0001419
18 congestive heart failure HP:0001635
19 dilated cardiomyopathy HP:0001644
20 waddling gait HP:0002515
21 scoliosis HP:0002650
22 hypoventilation HP:0002791
23 respiratory failure HP:0002878
24 elevated serum creatine phosphokinase HP:0003236
25 hyperlordosis HP:0003307
26 gowers sign HP:0003391
27 muscular dystrophy HP:0003560
28 calf muscle pseudohypertrophy HP:0003707
29 childhood onset HP:0011463
30 arrhythmia HP:0011675

Drugs & Therapeutics for Duchenne Muscular Dystrophy

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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

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Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy22 24

Anatomical Context for Duchenne Muscular Dystrophy

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MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

33
Skeletal muscle, Heart, Smooth muscle, Bone, Myeloid, B cells, 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

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MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

37
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

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Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 790)
idTitleAuthorsYear
1
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. (25907158)
2015
2
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy. (25892183)
2015
3
Modeling and studying mechanism of dilated cardiomyopathy using induced pluripotent stem cells derived from Duchenne Muscular Dystrophy (DMD) patients. (25791035)
2015
4
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. (25307856)
2014
5
Evaluation of neural damage in Duchenne muscular dystrophy patients. (25291916)
2014
6
Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy. (23021433)
2013
7
Reply to: Anaesthetic management in patients with Duchenne muscular dystrophy. (23446277)
2013
8
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
9
Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India. (23914114)
2013
10
Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up. (23783200)
2013
11
Cardiac phenotype of Duchenne Muscular Dystrophy: insights from cellular studies. (23261966)
2013
12
Surgery for scoliosis in Duchenne muscular dystrophy. (23450561)
2013
13
Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy. (23863142)
2013
14
Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents. (23552961)
2013
15
Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers. (23870371)
2013
16
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. (23909763)
2013
17
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. (22425491)
2012
18
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. (22713125)
2012
19
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. (22655510)
2012
20
microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. (22546853)
2012
21
Proliferative retinopathy in Duchenne muscular dystrophy and its response to bevacizumab. (22594924)
2012
22
The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. (22655512)
2012
23
MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy. (22980762)
2012
24
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. (21632191)
2012
25
Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. (21482750)
2011
26
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (20978473)
2011
27
Impending therapies for Duchenne muscular dystrophy. (21892079)
2011
28
miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. (21212803)
2011
29
Predicting the severity of Duchenne muscular dystrophy: implications for treatment. (21178098)
2011
30
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. (20395141)
2010
31
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. (20517938)
2010
32
Elaboration and reliability of functional evaluation on going up and downstairs scale for Duchenne Muscular Dystrophy. (21340247)
2010
33
Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. (21179598)
2010
34
Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy. (20730876)
2010
35
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
36
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
37
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
38
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. (19416897)
2009
39
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
40
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
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

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

64
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 Variation 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

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LifeMap Discovery
Genes differentially expressed in tissues of Duchenne Muscular Dystrophy patients vs. healthy controls: 32 (show all 293)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1XISTX inactive specific transcript (non-protein coding)Blood-4.310.023
2NOVnephroblastoma overexpressedBlood-3.970.000
3PI3peptidase inhibitor 3, skin-derivedBlood-3.760.000
4SESN3sestrin 3Blood-3.750.000
5CNTNAP3contactin associated protein-like 3Blood-3.700.000
6SELENBP1selenium binding protein 1Blood-3.550.000
7CNTNAP3Bcontactin associated protein-like 3BBlood-3.410.000
8OR2W3olfactory receptor, family 2, subfamily W, member 3Blood-3.390.000
9JAZF1JAZF zinc finger 1Blood-3.370.000
10PDZK1IP1PDZK1 interacting protein 1Blood-3.330.001
11DSC2desmocollin 2Blood-3.170.000
12TUBB2Atubulin, beta 2A class IIaBlood-3.130.000
13MBNL3muscleblind-like splicing regulator 3Blood-3.120.000
14KRT1keratin 1Blood-3.100.002
15SLC4A1solute carrier family 4 (anion exchanger), member 1 (Diego blood group)Blood-3.080.000
16MICAL2microtubule associated monooxygenase, calponin and LIM domain containing 2Blood-3.070.000
17NRG1neuregulin 1Blood-3.060.000
18TNS1tensin 1Blood-3.050.000
19SNCAsynuclein, alpha (non A4 component of amyloid precursor)Blood-3.020.000
20SLC6A8solute carrier family 6 (neurotransmitter transporter), member 8Blood-2.970.000
21THBDthrombomodulinBlood-2.970.000
22SLC14A1solute carrier family 14 (urea transporter), member 1 (Kidd blood group)Blood-2.970.000
23EPT1ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)Blood+2.960.000
24POLE2polymerase (DNA directed), epsilon 2, accessory subunitBlood+2.950.000
25CENPUcentromere protein UBlood+2.950.000
26FCRL5Fc receptor-like 5Blood+2.940.000
27NEK2NIMA-related kinase 2Blood+2.930.000
28PLK4polo-like kinase 4Blood+2.930.000
29TROAPtrophinin associated proteinBlood+2.920.000
30HRASLS2HRAS-like suppressor 2Blood+2.920.000
31DEPDC1BDEP domain containing 1BBlood+2.910.000
32FKBP11FK506 binding protein 11, 19 kDaBlood+2.910.000
33NCAPHnon-SMC condensin I complex, subunit HBlood+2.910.000
34CDCA3cell division cycle associated 3Blood+2.910.000
35FAM210Bfamily with sequence similarity 210, member BBlood-2.910.000
36USP18ubiquitin specific peptidase 18Blood+2.900.000
37PPOXprotoporphyrinogen oxidaseBlood+2.900.000
38GAS6growth arrest-specific 6Blood+2.900.000
39SLC25A37solute carrier family 25 (mitochondrial iron transporter), member 37Blood-2.900.001
40SPATS2spermatogenesis associated, serine-rich 2Blood+2.890.000
41CASC5cancer susceptibility candidate 5Blood+2.880.000
42KCNN3potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3Blood+2.880.000
43HSP90B1heat shock protein 90kDa beta (Grp94), member 1Blood+2.870.001
44PTTG1pituitary tumor-transforming 1Blood+2.870.000
45PTGS2prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)Blood-2.860.000
46KRT23keratin 23 (histone deacetylase inducible)Blood-2.860.000
47SPAG5sperm associated antigen 5Blood+2.860.000
48MAKmale germ cell-associated kinaseBlood-2.850.000
49FEN1flap structure-specific endonuclease 1Blood+2.840.000
50PARPBPPARP1 binding proteinBlood+2.840.000
51MYBL2v-myb avian myeloblastosis viral oncogene homolog-like 2Blood+2.830.000
52SLC38A10solute carrier family 38, member 10Blood+2.830.000
53CACNA2D3calcium channel, voltage-dependent, alpha 2/delta subunit 3Blood-2.830.000
54HSPA13heat shock protein 70kDa family, member 13Blood+2.830.000
55EMR3egf-like module containing, mucin-like, hormone receptor-like 3Blood-2.830.000
56NUF2NUF2, NDC80 kinetochore complex componentBlood+2.820.001
57GPRC5DG protein-coupled receptor, class C, group 5, member DBlood+2.800.003
58MLH3mutL homolog 3Blood-2.790.000
59STILSCL/TAL1 interrupting locusBlood+2.780.000
60CDC25Acell division cycle 25ABlood+2.780.000
61SKA1spindle and kinetochore associated complex subunit 1Blood+2.780.000
62TMOD1tropomodulin 1Blood-2.770.000
63KIAA1324KIAA1324Blood-2.770.000
64GPR146G protein-coupled receptor 146Blood-2.760.000
65CENPEcentromere protein E, 312kDaBlood+2.750.000
66CENPMcentromere protein MBlood+2.750.000
67HMGB3high mobility group box 3Blood+2.750.000
68GRAMD1CGRAM domain containing 1CBlood-2.730.000
69MAD2L1MAD2 mitotic arrest deficient-like 1 (yeast)Blood+2.730.001
70EAF2ELL associated factor 2Blood+2.710.000
71SPCS3signal peptidase complex subunit 3 homolog (S. cerevisiae)Blood+2.710.000
72SLC25A39solute carrier family 25, member 39Blood-2.710.000
73MYO1Dmyosin IDBlood+2.710.001
74PRC1protein regulator of cytokinesis 1Blood+2.710.000
75CENPWcentromere protein WBlood+2.700.000
76PRDX4peroxiredoxin 4Blood+2.700.000
77MTFR2mitochondrial fission regulator 2Blood+2.690.000
78SEC11CSEC11 homolog C (S. cerevisiae)Blood+2.690.000
79CADM1cell adhesion molecule 1Blood+2.680.000
80AURKAaurora kinase ABlood+2.670.001
81CHI3L1chitinase 3-like 1 (cartilage glycoprotein-39)Blood-2.670.000
82UBE2Tubiquitin-conjugating enzyme E2T (putative)Blood+2.670.000
83PDIA5protein disulfide isomerase family A, member 5Blood+2.660.000
84F2RL1coagulation factor II (thrombin) receptor-like 1Blood-2.660.000
85CEP128centrosomal protein 128kDaBlood+2.660.001
86SDF2L1stromal cell-derived factor 2-like 1Blood+2.660.000
87STRADBSTE20-related kinase adaptor betaBlood-2.660.000
88MCM2minichromosome maintenance complex component 2Blood+2.650.000
89OLIG1oligodendrocyte transcription factor 1Blood-2.650.000
90LOC730101uncharacterized LOC730101Blood+2.650.000
91ORC1origin recognition complex, subunit 1Blood+2.640.000
92CALUcalumeninBlood+2.620.003
93SLC1A4solute carrier family 1 (glutamate/neutral amino acid transporter), member 4Blood+2.620.000
94CDC45cell division cycle 45Blood+2.610.000
95TCP11L2t-complex 11, testis-specific-like 2Blood-2.610.000
96TSPAN5tetraspanin 5Blood-2.600.000
97TSHRthyroid stimulating hormone receptorBlood+2.600.003
98KIF23kinesin family member 23Blood+2.600.000
99SIGLEC17Psialic acid binding Ig-like lectin 17, pseudogeneBlood-2.600.000
100IGF2BP2insulin-like growth factor 2 mRNA binding protein 2Blood-2.600.000
101ABCC13ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogeneBlood-2.590.002
102C1QBcomplement component 1, q subcomponent, B chainBlood+2.590.001
103SNX5sorting nexin 5Blood+2.590.000
104PDIA4protein disulfide isomerase family A, member 4Blood+2.590.000
105ALPLalkaline phosphatase, liver/bone/kidneyBlood-2.590.000
106RFX2regulatory factor X, 2 (influences HLA class II expression)Blood-2.580.000
107PSAT1phosphoserine aminotransferase 1Blood+2.580.000
108KATNBL1katanin p80 subunit B-like 1Blood-2.580.000
109FANCIFanconi anemia, complementation group IBlood+2.580.000
110FABP5fatty acid binding protein 5 (psoriasis-associated)Blood+2.570.000
111TXLNG2Ptaxilin gamma 2, pseudogeneBlood+2.570.044
112EPB42erythrocyte membrane protein band 4.2Blood-2.560.004
113GLULglutamate-ammonia ligaseBlood-2.550.000
114DSCC1DNA replication and sister chromatid cohesion 1Blood+2.540.000
115CENPNcentromere protein NBlood+2.540.000
116FAM98Afamily with sequence similarity 98, member ABlood+2.540.000
117SLAMF7SLAM family member 7Blood+2.530.000
118CMTM2CKLF-like MARVEL transmembrane domain containing 2Blood-2.530.000
119IGKV4-1immunoglobulin kappa variable 4-1Blood+2.530.001
120SEPHS1selenophosphate synthetase 1Blood+2.530.000
121TMEM133transmembrane protein 133Blood+2.530.003
122HELLShelicase, lymphoid-specificBlood+2.530.001
123ARHGAP42Rho GTPase activating protein 42Blood+2.520.000
124METmet proto-oncogeneBlood+2.520.004
125GALNT2polypeptide N-acetylgalactosaminyltransferase 2Blood+2.510.000
126ALG14ALG14, UDP-N-acetylglucosaminyltransferase subunitBlood+2.510.001
127SIGLEC1sialic acid binding Ig-like lectin 1, sialoadhesinBlood+2.510.004
128CHAC2ChaC, cation transport regulator homolog 2 (E. coli)Blood+2.500.004
129GMNNgeminin, DNA replication inhibitorBlood+2.490.000
130HEY1hes-related family bHLH transcription factor with YRPW motif 1Blood-2.490.000
131TIGD3tigger transposable element derived 3Blood-2.480.000
132ANP32Eacidic (leucine-rich) nuclear phosphoprotein 32 family, member EBlood+2.470.000
133IL1RAPinterleukin 1 receptor accessory proteinBlood-2.470.000
134UBE2J1ubiquitin-conjugating enzyme E2, J1Blood+2.460.000
135IL1Binterleukin 1, betaBlood-2.460.005
136RGS16regulator of G-protein signaling 16Blood+2.450.000
137SLC45A4solute carrier family 45, member 4Blood-2.450.000
138CCNE2cyclin E2Blood+2.440.000
139TNFRSF10Ctumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domainBlood-2.440.000
140EZH2enhancer of zeste homolog 2 (Drosophila)Blood+2.440.000
141RAB30RAB30, member RAS oncogene familyBlood+2.440.001
142CCR10chemokine (C-C motif) receptor 10Blood+2.440.000
143NET1neuroepithelial cell transforming 1Blood+2.430.001
144TXNDC11thioredoxin domain containing 11Blood+2.430.000
145MND1meiotic nuclear divisions 1 homolog (S. cerevisiae)Blood+2.430.000
146TCF19transcription factor 19Blood+2.420.001
147COBLL1cordon-bleu WH2 repeat protein-like 1Blood+2.410.006
148ANKHANKH inorganic pyrophosphate transport regulatorBlood-2.410.000
149FCER1AFc fragment of IgE, high affinity I, receptor for; alpha polypeptideBlood-2.410.000
150TRAM2translocation associated membrane protein 2Blood+2.410.003
151CTLA4cytotoxic T-lymphocyte-associated protein 4Blood+2.400.000
152DCPSdecapping enzyme, scavengerBlood+2.400.000
153YBX3Y box binding protein 3Blood-2.400.000
154MAP7microtubule-associated protein 7Blood-2.390.000
155DHFRdihydrofolate reductaseBlood+2.390.000
156CASS4Cas scaffolding protein family member 4Blood-2.390.000
157HRASLSHRAS-like suppressorBlood-2.360.000
158ALAS2aminolevulinate, delta-, synthase 2Blood-2.340.002
159GGTA1Pglycoprotein, alpha-galactosyltransferase 1 pseudogeneBlood-2.340.000
160REPS2RALBP1 associated Eps domain containing 2Blood-2.330.000
161STX3syntaxin 3Blood-2.320.002
162IGF1Rinsulin-like growth factor 1 receptorBlood-2.320.000
163CCR3chemokine (C-C motif) receptor 3Blood-2.320.001
164DCAF12DDB1 and CUL4 associated factor 12Blood-2.310.000
165MAP3K7CLMAP3K7 C-terminal likeBlood-2.300.001
166SDC2syndecan 2Blood-2.290.000
167RUNDC3ARUN domain containing 3ABlood-2.290.010
168TSPAN2tetraspanin 2Blood-2.290.000
169WLSwntless Wnt ligand secretion mediatorBlood-2.290.000
170PIP4K2Aphosphatidylinositol-5-phosphate 4-kinase, type II, alphaBlood-2.280.000
171SMIM24small integral membrane protein 24Blood-2.270.002
172KCNJ2potassium inwardly-rectifying channel, subfamily J, member 2Blood-2.270.007
173HBBhemoglobin, betaBlood-2.270.002
174TRPM6transient receptor potential cation channel, subfamily M, member 6Blood-2.260.000
175HCAR3hydroxycarboxylic acid receptor 3Blood-2.250.013
176FOXO3forkhead box O3Blood-2.240.002
177UTS2urotensin 2Blood-2.240.019
178SLPIsecretory leukocyte peptidase inhibitorBlood-2.240.000
179R3HDM4R3H domain containing 4Blood-2.240.000
180RPGRIP1retinitis pigmentosa GTPase regulator interacting protein 1Blood-2.230.000
181TESCtescalcinBlood-2.230.001
182IL13RA1interleukin 13 receptor, alpha 1Blood-2.220.002
183ARAP3ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3Blood-2.220.000
184DMTNdematin actin binding proteinBlood-2.220.001
185C19orf33chromosome 19 open reading frame 33Blood-2.200.002
186CPPED1calcineurin-like phosphoesterase domain containing 1Blood-2.200.000
187TREM1triggering receptor expressed on myeloid cells 1Blood-2.200.006
188PRSS33protease, serine, 33Blood-2.190.000
189MYL4myosin, light chain 4, alkali; atrial, embryonicBlood-2.190.003
190KAZNkazrin, periplakin interacting proteinBlood-2.190.000
191OSBP2oxysterol binding protein 2Blood-2.180.001
192BAG1BCL2-associated athanogeneBlood-2.180.000
193FAM212Bfamily with sequence similarity 212, member BBlood-2.180.000
194ITLN1intelectin 1 (galactofuranose binding)Blood-2.170.000
195CCNJLcyclin J-likeBlood-2.150.000
196TAL1T-cell acute lymphocytic leukemia 1Blood-2.150.003
197FCHO2FCH domain only 2Blood-2.140.000
198CREB5cAMP responsive element binding protein 5Blood-2.140.001
199HBQ1hemoglobin, theta 1Blood-2.140.029
200CXCL1chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)Blood-2.130.000
201EMR2egf-like module containing, mucin-like, hormone receptor-like 2Blood-2.110.001
202NHSNance-Horan syndrome (congenital cataracts and dental anomalies)Blood-2.110.000
203NSUN7NOP2/Sun domain family, member 7Blood-2.100.001
204DGAT2diacylglycerol O-acyltransferase 2Blood-2.100.000
205ST6GALNAC2ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2Blood-2.100.001
206DPEP2dipeptidase 2Blood-2.100.000
207BEND2BEN domain containing 2Blood-2.090.001
208TMCC1transmembrane and coiled-coil domain family 1Blood-2.090.000
209KLF1Kruppel-like factor 1 (erythroid)Blood-2.090.010
210ST20suppressor of tumorigenicity 20Blood-2.090.003
211FBXO7F-box protein 7Blood-2.080.000
212NOGnogginBlood-2.080.003
213UBXN6UBX domain protein 6Blood-2.070.002
214RTN1reticulon 1Blood-2.070.000
215PTAFRplatelet-activating factor receptorBlood-2.070.001
216TGFAtransforming growth factor, alphaBlood-2.070.000
217ARHGEF12Rho guanine nucleotide exchange factor (GEF) 12Blood-2.060.004
218P2RY13purinergic receptor P2Y, G-protein coupled, 13Blood-2.060.001
219PRDM5PR domain containing 5Blood-2.040.026
220TMOD2tropomodulin 2 (neuronal)Blood-2.040.001
221MXI1MAX interactor 1, dimerization proteinBlood-2.030.003
222CR1Lcomplement component (3b/4b) receptor 1-likeBlood-2.030.015
223CD1CCD1c moleculeBlood-2.030.001
224HALhistidine ammonia-lyaseBlood-2.020.001
225HEMGNhemogenBlood-2.020.004
226MPZL3myelin protein zero-like 3Blood-2.010.000
227CXCL5chemokine (C-X-C motif) ligand 5Blood-2.010.024
228PID1phosphotyrosine interaction domain containing 1Blood-2.010.005
229AVILadvillinBlood-2.010.002
230IL1R1interleukin 1 receptor, type IBlood-2.000.004
231AOC3amine oxidase, copper containing 3Blood-2.000.000
232KIAA1211LKIAA1211-likeBlood-2.000.000
233CAMK1Dcalcium/calmodulin-dependent protein kinase IDBlood-2.000.000
234ADIPOR1adiponectin receptor 1Blood-2.000.000
235CYBRD1cytochrome b reductase 1Blood-2.000.000
236PTGDRprostaglandin D2 receptor (DP)Blood-2.000.001
237SORL1sortilin-related receptor, L(DLR class) A repeats containingBlood-2.000.000
238MBOAT2membrane bound O-acyltransferase domain containing 2Blood-1.990.001
239MRVI1murine retrovirus integration site 1 homologBlood-1.980.000
240EFHC2EF-hand domain (C-terminal) containing 2Blood-1.980.000
241MKRN1makorin ring finger protein 1Blood-1.980.001
242FLJ12120uncharacterized LOC388439Blood-1.980.038
243BTNL8butyrophilin-like 8Blood-1.980.020
244MMP25matrix metallopeptidase 25Blood-1.970.002
245FKBP1BFK506 binding protein 1B, 12.6 kDaBlood-1.970.002
246IL1R2interleukin 1 receptor, type IIBlood-1.970.011
247LYSTlysosomal trafficking regulatorBlood-1.970.000
248ASCC2activating signal cointegrator 1 complex subunit 2Blood-1.960.000
249ANK1ankyrin 1, erythrocyticBlood-1.960.009
250HBDhemoglobin, deltaBlood-1.960.039
251NPRL3nitrogen permease regulator-like 3 (S. cerevisiae)Blood-1.960.006
252C17orf103chromosome 17 open reading frame 103Blood-1.950.001
253CXCR1chemokine (C-X-C motif) receptor 1Blood-1.950.013
254CDK5R1cyclin-dependent kinase 5, regulatory subunit 1 (p35)Blood-1.940.000
255LAMP2lysosomal-associated membrane protein 2Blood-1.930.001
256CDC42BPACDC42 binding protein kinase alpha (DMPK-like)Blood-1.930.002
257C12orf39chromosome 12 open reading frame 39Blood-1.930.018
258ALDH5A1aldehyde dehydrogenase 5 family, member A1Blood-1.930.002
259BLVRBbiliverdin reductase B (flavin reductase (NADPH))Blood-1.930.004
2608-Marmembrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligaseBlood-1.930.001
261RXRAretinoid X receptor, alphaBlood-1.920.007
262SULF2sulfatase 2Blood-1.920.003
263LOC643072uncharacterized LOC643072Blood-1.920.006
264SEMA3Csema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3CBlood-1.920.000
265RAB11FIP1RAB11 family interacting protein 1 (class I)Blood-1.910.001
266KLC3kinesin light chain 3Blood-1.910.003
267ANGPT1angiopoietin 1Blood-1.910.000
268LOC284454uncharacterized LOC284454Blood-1.910.000
269MAP2K3mitogen-activated protein kinase kinase 3Blood-1.900.000
270FRMD4AFERM domain containing 4ABlood-1.900.005
271AOC2amine oxidase, copper containing 2 (retina-specific)Blood-1.890.000
272PLEK2pleckstrin 2Blood-1.880.009
273AMICA1adhesion molecule, interacts with CXADR antigen 1Blood-1.880.000
274GATA2GATA binding protein 2Blood-1.870.003
275TRIM58tripartite motif containing 58Blood-1.870.011
276CD1ECD1e moleculeBlood-1.870.004
277KITv-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homologBlood-1.870.000
278GYPCglycophorin C (Gerbich blood group)Blood-1.870.006
279AK1adenylate kinase 1Blood-1.860.002
280TTC25tetratricopeptide repeat domain 25Blood-1.860.005
281PBX1pre-B-cell leukemia homeobox 1Blood-1.860.006
282PINK1PTEN induced putative kinase 1Blood-1.850.000
283DOCK5dedicator of cytokinesis 5Blood-1.850.002
284SLC11A1solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1Blood-1.850.003
285FAM129Afamily with sequence similarity 129, member ABlood-1.850.000
286TM6SF1transmembrane 6 superfamily member 1Blood-1.850.000
287HAGHhydroxyacylglutathione hydrolaseBlood-1.850.004
288FRAT1frequently rearranged in advanced T-cell lymphomasBlood-1.850.001
289OGFRL1opioid growth factor receptor-like 1Blood-1.840.000
290HGDhomogentisate 1,2-dioxygenaseBlood-1.840.013
291PPM1Fprotein phosphatase, Mg2+/Mn2+ dependent, 1FBlood-1.840.000
292TBC1D22BTBC1 domain family, member 22BBlood-1.830.003
293RNF10ring finger protein 10Blood-1.830.002


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

Pathways for genes affiliated with Duchenne Muscular Dystrophy

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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 events38
10.0DAG1, DMD
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)38
Fatty Acid Beta Oxidation38
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:
45Novoseek, 26HMDB, 51PharmGKB, 13DrugBank
See all sources

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

(show all 25)
idCompoundScoreTop Affiliating Genes
1hind iii4510.1OTC, DMD
2ecori4510.0DMD, OTC
3ornithine45 2611.0OTC, CHKB, DMD
4tositumomab51 1311.0C1QB, C1QC
5ibritumomab51 1310.9C1QC, C1QB
6succinate459.9DMD, GK, CHKB
7alefacept45 1310.9C1QC, C1QB
8bevacizumab51 1310.9C1QB, C1QC
9urea45 26 1311.9OTC, CHKB, DMD
10efalizumab45 1310.9C1QC, C1QB
11daclizumab45 1310.9C1QB, C1QC
12basiliximab45 1310.9C1QC, C1QB
13natalizumab45 1310.8C1QB, C1QC
14alemtuzumab45 1310.8C1QB, C1QC
15gemtuzumab ozogamicin51 45 1311.8C1QC, C1QB
16adalimumab45 51 1311.7C1QC, C1QB
17glycerol45 26 1311.7OTC, CHKB, GK, DMD
18abciximab45 1310.6CHKB, C1QC, C1QB
19etanercept45 51 1311.6C1QC, C1QB
20creatinine459.5OTC, CHKB, GK, DMD
21pyruvate459.4OTC, CHKB, GK
22cetuximab45 51 1311.3C1QC, C1QB
23glucose459.2DMD, GK, CHKB, MSTN, OTC
24sodium45 2610.1OTC, SNTB2, SNTB1, DMD
25calcium45 51 26 1311.0SNTB2, SNTB1, CHKB, C1QC, C1QB, DMD

GO Terms for genes affiliated with Duchenne Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1syntrophin complexGO:001601310.0SNTG2, DMD
2filopodiumGO:003017510.0DMD, DAG1
3costamereGO:00430349.9DMD, DAG1
4sarcolemmaGO:00423839.2DAG1, DMD, SNTB1, SNTG2
5cytoskeletonGO:00058569.1DAG1, DMD, SNTB1, SNTG2
6dystrophin-associated glycoprotein complexGO:00160109.0SNTB2, SNTB1, DMD, DAG1
7protein complexGO:00432348.8SNTB2, SNTB1, DMD

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.7LTBP4, DMD, DAG1
2complement activationGO:00069569.5C1QC, C1QB
3complement activation, classical pathwayGO:00069589.3C1QC, C1QB

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:000830710.0DMD, DAG1
2dystroglycan bindingGO:00021629.9DAG1, DMD
3vinculin bindingGO:00171669.7DMD, DAG1
4actin bindingGO:00037798.5SNTB2, SNTG2, SNTB1, DMD, DAG1

Products for genes affiliated with Duchenne Muscular Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Duchenne Muscular Dystrophy

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet