MCID: DYS032
MIFTS: 43

Dystrophinopathies

Categories: Rare diseases

Aliases & Classifications for Dystrophinopathies

MalaCards integrated aliases for Dystrophinopathies:

Name: Dystrophinopathies 24 37 29
Dystrophinopathy 53

Characteristics:

GeneReviews:

24
Penetrance Penetrance of dystrophinopathies is complete in males...

Classifications:



External Ids:

KEGG 37 H00562

Summaries for Dystrophinopathies

MalaCards based summary : Dystrophinopathies, also known as dystrophinopathy, is related to muscular dystrophy, becker type and muscular dystrophy, duchenne type. An important gene associated with Dystrophinopathies is DMD (Dystrophin), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drug arginine has been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

GeneReviews: NBK1119

Related Diseases for Dystrophinopathies

Diseases related to Dystrophinopathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 33.2 DMD UTRN
2 muscular dystrophy, duchenne type 11.3
3 cytoplasmic body myopathy 10.7 DMD UTRN
4 idiopathic achalasia 10.4 NOS2 TNF
5 chronic gonococcal salpingitis 10.4 TNF TNFRSF1A
6 retinitis pigmentosa 75 10.3 TNF TNFRSF1A
7 crohn's colitis 10.3 NOS2 TNF
8 relapsing fever 10.3 TNF TNFRSF1A
9 muscular dystrophy 10.3
10 periodic fever, familial, autosomal dominant 10.2 TNF TNFRSF1A
11 eales disease 10.2 NOS2 TNF
12 acute salpingitis 10.1 TNF TNFRSF1A
13 myocarditis 10.1 DMD NOS2 TNF
14 limb-girdle muscular dystrophy 10.0
15 mitochondrial disorders 10.0
16 mitochondrial metabolism disease 9.9
17 chronic salpingitis 9.9 TNF TNFRSF1A
18 chronic mountain sickness 9.9 CASP8 CASP9
19 autism 9.7
20 chediak-higashi syndrome 9.7
21 cardiomyopathy, dilated, 3b 9.7
22 glycerol kinase deficiency 9.7
23 aging 9.7
24 muscular dystrophy, congenital, lmna-related 9.7
25 dilated cardiomyopathy 9.7
26 autism spectrum disorder 9.7
27 cardiac arrest 9.7
28 myoglobinuria 9.7
29 hypogonadotropic hypogonadism 9.7
30 myopathy 9.7
31 myotonic dystrophy 9.7
32 dysferlinopathy 9.7
33 myotonia atrophica 9.7
34 hypotonia 9.7
35 breast adenocarcinoma 9.5 CASP8 CASP9 TNF
36 adamantinoma of long bones 9.4 CASP8 CASP9 TNFSF10
37 post-transplant lymphoproliferative disease 9.4 CASP8 TNF TNFRSF1A TNFSF10
38 myeloma, multiple 9.3 CASP8 CASP9 TNF
39 lymphoma, non-hodgkin, familial 9.2 APAF1 CASP8 TNFRSF1A
40 alzheimer disease 8.1 APAF1 CASP2 CASP8 CASP9 TNF TNFRSF1A

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to Dystrophinopathies

Symptoms & Phenotypes for Dystrophinopathies

GenomeRNAi Phenotypes related to Dystrophinopathies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 NOS2 TNF TNFRSF1A TNFSF10 APAF1 CASP8
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 CASP9 NOS2 TNF TNFRSF1A TNFSF10 APAF1
3 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 TNF TNFSF10 CASP2

MGI Mouse Phenotypes related to Dystrophinopathies:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.23 CASP9 DMD CASP8 APAF1 NOS2 TNFRSF1A
2 cellular MP:0005384 10.22 CASP9 CASP2 CASP6 CASP8 APAF1 NOS2
3 endocrine/exocrine gland MP:0005379 10.2 CASP9 CASP2 DMD CASP8 APAF1 TNFRSF1A
4 growth/size/body region MP:0005378 10.19 CASP9 CASP6 CASP8 APAF1 NOS2 TNFRSF1A
5 immune system MP:0005387 10.19 CASP9 CASP2 DMD CASP8 APAF1 TNFRSF1A
6 homeostasis/metabolism MP:0005376 10.16 BLVRB CASP6 CASP8 NOS2 DMD TNF
7 hematopoietic system MP:0005397 10.13 CASP9 CASP2 CASP8 NOS2 DMD TNF
8 mortality/aging MP:0010768 10.13 CASP9 CASP2 CASP8 APAF1 NOS2 TNFRSF1A
9 nervous system MP:0003631 10.02 CASP9 CASP2 CASP6 DMD CASP8 APAF1
10 liver/biliary system MP:0005370 10 DMD CASP8 NOS2 TNFRSF1A TNF UTRN
11 craniofacial MP:0005382 9.96 APAF1 CASP9 TNF NOS2 TNFRSF1A
12 limbs/digits/tail MP:0005371 9.88 APAF1 TNF DMD UTRN TNFRSF1A
13 muscle MP:0005369 9.88 CASP8 NOS2 DMD TNF UTRN TNFRSF1A
14 neoplasm MP:0002006 9.85 CASP8 APAF1 NOS2 TNFRSF1A TNF TNFSF10
15 reproductive system MP:0005389 9.8 CASP2 APAF1 NOS2 TNFRSF1A DMD TNF
16 respiratory system MP:0005388 9.76 DMD CASP8 APAF1 CASP9 TNFRSF1A TNF
17 skeleton MP:0005390 9.5 APAF1 NOS2 DMD TNF TNFSF10 UTRN
18 vision/eye MP:0005391 9.1 CASP6 APAF1 TNF NOS2 DMD TNFRSF1A

Drugs & Therapeutics for Dystrophinopathies

Drugs for Dystrophinopathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 arginine Nutraceutical Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
2 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
3 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
4 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
5 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
6 Study of Ataluren in ≥2 to <5 Year-Old Males With Duchenne Muscular Dystrophy Completed NCT02819557 Phase 2 Ataluren
7 Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on Corticosteroids Completed NCT01388764 Phase 1 L-arginine
8 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
9 Sodium Nitrate for Muscular Dystrophy Recruiting NCT02434627 Phase 1 Sodium Nitrate
10 Clinical Evaluator Outcomes Reliability Study Unknown status NCT02146586
11 Prospective Becker-Heart-Study Unknown status NCT02020954
12 Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure Completed NCT02411370
13 Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies Recruiting NCT02109692 Not Applicable

Search NIH Clinical Center for Dystrophinopathies

Genetic Tests for Dystrophinopathies

Genetic tests related to Dystrophinopathies:

# Genetic test Affiliating Genes
1 Dystrophinopathies 29

Anatomical Context for Dystrophinopathies

MalaCards organs/tissues related to Dystrophinopathies:

41
Heart, Testes, Skin, Skeletal Muscle, Bone

Publications for Dystrophinopathies

Articles related to Dystrophinopathies:

(show top 50) (show all 113)
# Title Authors Year
1
Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. ( 29067654 )
2018
2
Comprehensive genetic characteristics of dystrophinopathies in China. ( 29973226 )
2018
3
Unusual Presentations of Dystrophinopathies in Childhood. ( 29610182 )
2018
4
Autism spectrum disorders are prevalent among patients with dystrophinopathies. ( 29594829 )
2018
5
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28805065 )
2017
6
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. ( 28859693 )
2017
7
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28914548 )
2017
8
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation. ( 29154419 )
2017
9
Genetic profile of Brazilian patients with dystrophinopathies. ( 28116794 )
2017
10
Neurohumoral treatment for cardiac disease in dystrophinopathies and mitochondrial disorders. ( 28914564 )
2017
11
Dystrophinopathies and Limb-Girdle Muscular Dystrophies. ( 28427100 )
2017
12
Destination therapy with ventricular assist devices for patients with dystrophinopathies: A new way of life. ( 27993367 )
2016
13
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. ( 27582364 )
2016
14
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene. ( 27206868 )
2016
15
Feasibility and tolerability of low-intensity whole body vibration and its effects on muscle function and bone in patients with dystrophinopathies: A pilot study. ( 27718512 )
2016
16
Reassessing carrier status for dystrophinopathies. ( 27761523 )
2016
17
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. ( 27922502 )
2016
18
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. ( 27425820 )
2016
19
Left ventricular assist device as destination therapy in cardiac end-stage dystrophinopathies: Midterm results. ( 27692952 )
2016
20
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy. ( 26956251 )
2016
21
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. ( 26102164 )
2015
22
Commentary on &amp;quot;Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study&amp;quot;. ( 26102165 )
2015
23
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. ( 26119801 )
2015
24
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. ( 26677332 )
2015
25
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. ( 25972034 )
2015
26
Dystrophinopathies. ( 26502761 )
2015
27
What can we learn from assisted bicycle training in a girl with dystrophinopathy? A case study. ( 24832398 )
2015
28
Current concepts in dystrophinopathies. ( 25416089 )
2015
29
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. ( 26284620 )
2015
30
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. ( 25452464 )
2014
31
Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool. ( 23562947 )
2014
32
New pathobiochemical insights into dystrophinopathy from the proteomics of senescent mdx mouse muscle. ( 24917816 )
2014
33
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. ( 25108525 )
2014
34
Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies. ( 27858666 )
2014
35
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. ( 24871807 )
2014
36
Current treatment and management of dystrophinopathies. ( 24619767 )
2014
37
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. ( 23299919 )
2013
38
Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. ( 24106963 )
2013
39
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. ( 23116935 )
2013
40
Motor unit potentials with satellites in dystrophinopathies. ( 23369874 )
2013
41
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. ( 23695957 )
2013
42
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. ( 22209498 )
2012
43
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. ( 22655516 )
2012
44
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? ( 21305657 )
2011
45
Dystrophinopathies. ( 21496622 )
2011
46
Symptomatic dystrophinopathies in female children. ( 21186124 )
2011
47
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. ( 20646909 )
2010
48
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. ( 20516809 )
2010
49
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. ( 19937601 )
2009
50
Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. ( 19158820 )
2009

Variations for Dystrophinopathies

Expression for Dystrophinopathies

Search GEO for disease gene expression data for Dystrophinopathies.

Pathways for Dystrophinopathies

Pathways related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
2
Show member pathways
13.76 APAF1 CASP6 CASP8 CASP9 NOS2 TNF
3
Show member pathways
13.59 CASP2 CASP6 CASP8 CASP9 NOS2 TNF
4
Show member pathways
13.22 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
5
Show member pathways
12.86 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
6
Show member pathways
12.81 APAF1 CASP6 CASP8 CASP9 DMD TNF
7
Show member pathways
12.75 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
8
Show member pathways
12.74 CASP8 CASP9 TNF TNFRSF1A TNFSF10
9 12.73 APAF1 CASP8 CASP9 NOS2
10 12.73 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
11
Show member pathways
12.71 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
12
Show member pathways
12.66 APAF1 CASP2 CASP6 CASP8 CASP9
13
Show member pathways
12.59 APAF1 CASP8 CASP9 TNFSF10
14
Show member pathways
12.52 APAF1 CASP8 CASP9 TNF TNFRSF1A
15
Show member pathways
12.47 CASP2 CASP6 CASP8 CASP9
16
Show member pathways
12.47 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
17
Show member pathways
12.3 CASP8 TNF TNFRSF1A TNFSF10
18
Show member pathways
12.24 CASP2 CASP6 CASP8 CASP9 TNFSF10
19
Show member pathways
12.23 CASP8 CASP9 NOS2 TNF TNFRSF1A
20
Show member pathways
12.22 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
21 12.21 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
22
Show member pathways
12.2 CASP8 CASP9 TNFSF10
23
Show member pathways
12.18 CASP8 TNF TNFRSF1A TNFSF10
24 12.15 CASP9 NOS2 TNF TNFRSF1A
25 12.07 CASP2 CASP6 CASP8 CASP9
26
Show member pathways
12 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
27
Show member pathways
11.97 APAF1 CASP8 CASP9
28
Show member pathways
11.96 APAF1 CASP9 TNF TNFRSF1A
29
Show member pathways
11.95 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
30
Show member pathways
11.93 CASP2 CASP8 CASP9
31 11.9 CASP8 TNF TNFRSF1A
32 11.9 CASP2 CASP6 CASP8 CASP9
33
Show member pathways
11.89 APAF1 CASP2 CASP6
34 11.83 APAF1 CASP9 NOS2
35 11.82 APAF1 CASP2 CASP6 CASP9
36
Show member pathways
11.77 CASP6 CASP8 CASP9
37
Show member pathways
11.76 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
38 11.72 APAF1 CASP8 CASP9
39
Show member pathways
11.72 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
40 11.67 CASP8 CASP9 NOS2
41
Show member pathways
11.66 APAF1 CASP6 CASP9
42
Show member pathways
11.64 NOS2 TNF TNFRSF1A
43 11.59 APAF1 CASP8 CASP9 TNF
44 11.54 TNF TNFRSF1A TNFSF10
45
Show member pathways
11.52 APAF1 CASP6 CASP8 CASP9
46 11.49 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
47 11.46 CASP8 TNF TNFRSF1A
48
Show member pathways
11.43 APAF1 CASP8 CASP9 TNFRSF1A
49 11.43 APAF1 CASP8 CASP9 TNFSF10
50 11.41 CASP6 CASP8 CASP9

GO Terms for Dystrophinopathies

Cellular components related to Dystrophinopathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.62 APAF1 CASP9 DMD UTRN
2 filopodium membrane GO:0031527 9.26 DMD UTRN
3 membrane raft GO:0045121 9.26 CASP8 DMD TNF TNFRSF1A
4 dystrophin-associated glycoprotein complex GO:0016010 9.16 DMD UTRN
5 apoptosome GO:0043293 8.62 APAF1 CASP9

Biological processes related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.95 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
2 response to lipopolysaccharide GO:0032496 9.84 CASP8 CASP9 NOS2 TNFRSF1A
3 positive regulation of apoptotic process GO:0043065 9.83 APAF1 CASP2 CASP9 TNF TNFSF10
4 aging GO:0007568 9.81 APAF1 CASP2 CASP9 DMD
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.8 CASP8 TNF TNFRSF1A TNFSF10
6 cellular response to mechanical stimulus GO:0071260 9.75 CASP2 CASP8 TNFRSF1A
7 cellular response to organic cyclic compound GO:0071407 9.74 CASP8 CASP9 TNF
8 regulation of apoptotic process GO:0042981 9.73 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.67 CASP2 CASP9 TNF TNFRSF1A
10 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.65 CASP8 TNF TNFRSF1A
11 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.63 CASP8 TNFSF10
12 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.63 CASP2 CASP9
13 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 CASP8 TNF TNFRSF1A
14 response to antibiotic GO:0046677 9.62 CASP8 CASP9
15 positive regulation of apoptotic signaling pathway GO:2001235 9.62 APAF1 CASP2
16 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.61 CASP8 TNFSF10
17 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.61 CASP8 TNFSF10
18 response to denervation involved in regulation of muscle adaptation GO:0014894 9.6 DMD UTRN
19 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.59 APAF1 CASP9
20 positive regulation of ceramide biosynthetic process GO:2000304 9.58 TNF TNFRSF1A
21 regulation of establishment of endothelial barrier GO:1903140 9.56 TNF TNFRSF1A
22 response to cobalt ion GO:0032025 9.55 CASP8 CASP9
23 glial cell apoptotic process GO:0034349 9.52 APAF1 CASP9
24 death-inducing signaling complex assembly GO:0071550 9.5 CASP8 TNF TNFRSF1A
25 execution phase of apoptosis GO:0097194 9.46 CASP2 CASP6 CASP8 CASP9
26 apoptotic signaling pathway GO:0097190 9.35 APAF1 CASP2 CASP8 TNF TNFRSF1A
27 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.1 APAF1 CASP2 CASP8 CASP9 TNF TNFSF10

Molecular functions related to Dystrophinopathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 APAF1 CASP2 CASP6 CASP8 TNF TNFRSF1A
2 peptidase activity GO:0008233 9.73 CASP2 CASP6 CASP8 CASP9
3 cysteine-type peptidase activity GO:0008234 9.67 CASP2 CASP6 CASP8 CASP9
4 tumor necrosis factor receptor binding GO:0005164 9.5 CASP8 TNF TNFSF10
5 cysteine-type endopeptidase activity GO:0004197 9.46 CASP2 CASP6 CASP8 CASP9
6 vinculin binding GO:0017166 9.4 DMD UTRN
7 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.26 CASP2 CASP6 CASP8 CASP9
8 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 8.92 CASP2 CASP6 CASP8 CASP9

Sources for Dystrophinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....