MCID: DYS032
MIFTS: 42

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 drugs arginine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skeletal muscle, 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 48)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 33.1 DMD UTRN
2 muscular dystrophy, duchenne type 11.4
3 muscular dystrophy 10.5
4 cytoplasmic body myopathy 10.2 DMD UTRN
5 chronic mountain sickness 10.1 CASP8 CASP9
6 cholestasis, benign recurrent intrahepatic, 2 10.1 CASP8 CASP9
7 idiopathic achalasia 10.1 NOS2 TNF
8 cerebral artery occlusion 10.1 NOS2 TNF
9 crohn's colitis 10.1 NOS2 TNF
10 arthus reaction 10.1 NOS2 TNF
11 chronic gonococcal salpingitis 10.1 TNF TNFRSF1A
12 cardiomyopathy, dilated, 3b 10.1
13 dilated cardiomyopathy 10.1
14 myopathy 10.1
15 retinitis pigmentosa 75 10.1 TNF TNFRSF1A
16 relapsing fever 10.0 TNF TNFRSF1A
17 retinal ischemia 10.0 APAF1 CASP2 TNF
18 periodic fever, familial, autosomal dominant 10.0 TNF TNFRSF1A
19 eales disease 10.0 NOS2 TNF
20 acute salpingitis 10.0 TNF TNFRSF1A
21 spondylarthropathy 10.0 TNF TNFRSF1A
22 myocarditis 10.0 DMD NOS2 TNF
23 chronic salpingitis 10.0 TNF TNFRSF1A
24 breast adenocarcinoma 10.0 CASP8 CASP9 TNF
25 muscular disease 10.0 DMD TNF UTRN
26 conjunctival disease 10.0 TNF TNFRSF1A
27 bacterial sepsis 9.9 NOS2 TNF
28 autism 9.9
29 chediak-higashi syndrome 9.9
30 myopathy, congenital 9.9
31 glycerol kinase deficiency 9.9
32 muscular dystrophy, congenital, lmna-related 9.9
33 cardiac arrest 9.9
34 myoglobinuria 9.9
35 hypogonadotropic hypogonadism 9.9
36 myotonic dystrophy 9.9
37 dysferlinopathy 9.9
38 mitochondrial disorders 9.9
39 limb-girdle muscular dystrophy 9.9
40 myotonia atrophica 9.9
41 hypotonia 9.9
42 myeloma, multiple 9.9 CASP8 CASP9 TNF
43 adamantinoma of long bones 9.9 CASP8 CASP9 TNFSF10
44 adult-onset still's disease 9.8 TNF TNFRSF1A
45 cholangiocarcinoma 9.8 CASP9 TNFRSF1A TNFSF10
46 post-transplant lymphoproliferative disease 9.7 CASP8 TNF TNFRSF1A TNFSF10
47 alzheimer disease 9.7 CASP2 CASP8 CASP9 TNF TNFRSF1A
48 ewing sarcoma 9.7 CASP8 CASP9 TNF TNFSF10

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 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
3 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 CASP2 TNF TNFSF10

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 APAF1 CASP8 CASP9 DMD NOS2 TNF
2 cellular MP:0005384 10.22 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
3 endocrine/exocrine gland MP:0005379 10.2 APAF1 CASP2 CASP8 CASP9 DMD NOS2
4 growth/size/body region MP:0005378 10.19 APAF1 CASP6 CASP8 CASP9 DMD NOS2
5 immune system MP:0005387 10.19 APAF1 CASP2 CASP8 CASP9 DMD NOS2
6 homeostasis/metabolism MP:0005376 10.16 BLVRB CASP6 CASP8 DMD NOS2 TNF
7 hematopoietic system MP:0005397 10.13 CASP2 CASP8 CASP9 DMD NOS2 TNF
8 mortality/aging MP:0010768 10.13 APAF1 CASP2 CASP8 CASP9 DMD NOS2
9 nervous system MP:0003631 10.02 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
10 liver/biliary system MP:0005370 10 CASP8 DMD NOS2 TNF TNFRSF1A TNFSF10
11 craniofacial MP:0005382 9.96 APAF1 CASP9 NOS2 TNF TNFRSF1A
12 limbs/digits/tail MP:0005371 9.88 APAF1 DMD TNF TNFRSF1A UTRN
13 muscle MP:0005369 9.88 CASP8 DMD NOS2 TNF TNFRSF1A UTRN
14 neoplasm MP:0002006 9.85 APAF1 CASP8 NOS2 TNF TNFRSF1A TNFSF10
15 reproductive system MP:0005389 9.8 APAF1 CASP2 DMD NOS2 TNF TNFRSF1A
16 respiratory system MP:0005388 9.76 APAF1 CASP8 CASP9 DMD NOS2 TNF
17 skeleton MP:0005390 9.5 APAF1 DMD NOS2 TNF TNFRSF1A TNFSF10
18 vision/eye MP:0005391 9.1 APAF1 CASP6 DMD NOS2 TNF 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 Phase 1
2
Racepinephrine Approved 329-65-7 838
3
Epinephrine Approved, Vet_approved 51-43-4 5816
4 Epinephryl borate

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
2 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
3 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
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 in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD) 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 Sodium Nitrate for Muscular Dystrophy Unknown status NCT02434627 Phase 1 Sodium Nitrate
8 Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on Corticosteroids Completed NCT01388764 Phase 1 L-arginine
9 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
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
14 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919

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, Skeletal Muscle, Skin, Bone, Breast, Spinal Cord

Publications for Dystrophinopathies

Articles related to Dystrophinopathies:

(show top 50) (show all 147)
# 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
Executive Skills and Academic Achievement in the Dystrophinopathies. ( 30375314 )
2018
6
Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position. ( 30511603 )
2018
7
Low-level dystrophin expression attenuating the dystrophinopathy phenotype. ( 29305136 )
2018
8
Detection and management of cardiomyopathy in female dystrophinopathy carriers. ( 29358000 )
2018
9
Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data. ( 29365344 )
2018
10
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy. ( 29373175 )
2018
11
Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan. ( 29526935 )
2018
12
Female dystrophinopathy: Review of current literature. ( 29801751 )
2018
13
Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy. ( 29991677 )
2018
14
Ratio of Creatine Kinase to Alanine Aminotransferase as a Biomarker of Acute Liver Injury in Dystrophinopathy. ( 30018675 )
2018
15
Is Becker Dystrophinopathy a Contraindication to Heart Transplant? Experience in a Single Institution. ( 30029972 )
2018
16
Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India. ( 30090132 )
2018
17
Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies. ( 30148687 )
2018
18
Characterization of Australian Labradoodle dystrophinopathy. ( 30286978 )
2018
19
A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017. ( 30345857 )
2018
20
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience. ( 30453357 )
2018
21
Dataset on the comparative proteomic profiling of mouse saliva and serum from wild type versus the dystrophic mdx-4cv mouse model of dystrophinopathy. ( 30456239 )
2018
22
Dystrophinopathy associated dysfunction of Krebs cycle metabolism. ( 30476171 )
2018
23
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28805065 )
2017
24
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. ( 28859693 )
2017
25
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28914548 )
2017
26
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation. ( 29154419 )
2017
27
Genetic profile of Brazilian patients with dystrophinopathies. ( 28116794 )
2017
28
Neurohumoral treatment for cardiac disease in dystrophinopathies and mitochondrial disorders. ( 28914564 )
2017
29
Dystrophinopathies and Limb-Girdle Muscular Dystrophies. ( 28427100 )
2017
30
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy. ( 28181689 )
2017
31
Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers. ( 28181471 )
2017
32
Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources. ( 28187773 )
2017
33
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India. ( 28610567 )
2017
34
Destination therapy with ventricular assist devices for patients with dystrophinopathies: A new way of life. ( 27993367 )
2016
35
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. ( 27582364 )
2016
36
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
37
Reassessing carrier status for dystrophinopathies. ( 27761523 )
2016
38
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. ( 27922502 )
2016
39
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. ( 27425820 )
2016
40
Left ventricular assist device as destination therapy in cardiac end-stage dystrophinopathies: Midterm results. ( 27692952 )
2016
41
A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy. ( 28112097 )
2016
42
Pathoproteomic profiling of the skeletal muscle matrisome in dystrophinopathy associated myofibrosis. ( 26256116 )
2016
43
Proteomic analysis of dystrophin deficiency and associated changes in the aged mdx-4cv heart model of dystrophinopathy-related cardiomyopathy. ( 26961938 )
2016
44
Digit Span Performance in Children with Dystrophinopathy: A Verbal Span or Working Memory Contribution? ( 27268852 )
2016
45
Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy. ( 27279388 )
2016
46
Independent variability of microtubule perturbations associated with dystrophinopathy. ( 28171583 )
2016
47
EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY. ( 30226963 )
2016
48
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. ( 26102164 )
2015
49
Commentary on &amp;quot;Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study&amp;quot;. ( 26102165 )
2015
50
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. ( 26119801 )
2015

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 57)
# 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
13.58 CASP2 CASP6 CASP8 CASP9 NOS2 TNF
4
Show member pathways
13.21 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
5
Show member pathways
12.98 APAF1 CASP8 CASP9 TNF TNFRSF1A
6
Show member pathways
12.88 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
7
Show member pathways
12.82 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
8
Show member pathways
12.79 APAF1 CASP6 CASP8 CASP9 DMD TNF
9
Show member pathways
12.75 CASP8 CASP9 TNF TNFRSF1A TNFSF10
10 12.74 APAF1 CASP8 CASP9 NOS2
11 12.73 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
12
Show member pathways
12.67 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
13
Show member pathways
12.66 APAF1 CASP2 CASP6 CASP8 CASP9
14
Show member pathways
12.63 APAF1 CASP8 CASP9 TNF TNFRSF1A
15
Show member pathways
12.6 APAF1 CASP8 CASP9 TNFSF10
16
Show member pathways
12.55 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
17
Show member pathways
12.48 CASP2 CASP6 CASP8 CASP9
18
Show member pathways
12.3 CASP8 TNF TNFRSF1A TNFSF10
19 12.27 APAF1 CASP8 CASP9 TNF
20
Show member pathways
12.24 CASP8 CASP9 NOS2 TNF TNFRSF1A
21
Show member pathways
12.22 CASP2 CASP6 CASP8 CASP9 TNFSF10
22
Show member pathways
12.2 CASP8 CASP9 TNFSF10
23
Show member pathways
12.18 CASP8 TNF TNFRSF1A TNFSF10
24 12.16 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
25 12.15 CASP9 NOS2 TNF TNFRSF1A
26
Show member pathways
12.13 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
27 12.06 CASP2 CASP6 CASP8 CASP9
28
Show member pathways
12.02 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
29
Show member pathways
11.98 APAF1 CASP8 CASP9
30
Show member pathways
11.97 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
31
Show member pathways
11.96 APAF1 CASP9 TNF TNFRSF1A
32
Show member pathways
11.94 CASP2 CASP8 CASP9
33 11.92 CASP8 TNF TNFRSF1A
34
Show member pathways
11.91 CASP2 CASP6 CASP8 CASP9
35
Show member pathways
11.9 APAF1 CASP2 CASP6
36 11.9 CASP2 CASP6 CASP8 CASP9
37
Show member pathways
11.85 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
38 11.83 APAF1 CASP9 NOS2
39 11.82 APAF1 CASP2 CASP6 CASP9
40
Show member pathways
11.78 CASP6 CASP8 CASP9
41 11.72 APAF1 CASP8 CASP9
42 11.67 CASP8 CASP9 NOS2
43
Show member pathways
11.67 APAF1 CASP6 CASP9
44
Show member pathways
11.66 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
45
Show member pathways
11.65 NOS2 TNF TNFRSF1A
46 11.6 APAF1 CASP8 CASP9 TNF
47 11.54 TNF TNFRSF1A TNFSF10
48
Show member pathways
11.53 APAF1 CASP6 CASP8 CASP9
49 11.49 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
50 11.47 CASP8 TNF TNFRSF1A

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 9.55 APAF1 CASP8 CASP9 DMD UTRN
2 dystrophin-associated glycoprotein complex GO:0016010 9.32 DMD UTRN
3 filopodium membrane GO:0031527 9.26 DMD UTRN
4 membrane raft GO:0045121 9.26 CASP8 DMD TNF TNFRSF1A
5 apoptosome GO:0043293 8.62 APAF1 CASP9

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.85 APAF1 CASP2 CASP9 TNF TNFSF10
2 aging GO:0007568 9.81 APAF1 CASP2 CASP9 DMD
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.8 CASP8 TNF TNFRSF1A TNFSF10
4 apoptotic process GO:0006915 9.8 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
5 response to lipopolysaccharide GO:0032496 9.77 CASP8 CASP9 NOS2
6 regulation of apoptotic process GO:0042981 9.77 APAF1 CASP2 CASP6 CASP8 CASP9
7 cellular response to mechanical stimulus GO:0071260 9.74 CASP2 CASP8 TNFRSF1A
8 cellular response to organic cyclic compound GO:0071407 9.71 CASP8 CASP9 TNF
9 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.65 CASP8 TNF TNFRSF1A
10 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.62 CASP8 TNFSF10
11 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.62 CASP2 CASP9
12 apoptotic signaling pathway GO:0097190 9.62 APAF1 CASP2 CASP8 TNF
13 response to antibiotic GO:0046677 9.61 CASP8 CASP9
14 positive regulation of apoptotic signaling pathway GO:2001235 9.61 APAF1 CASP2
15 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.61 CASP8 TNF TNFRSF1A
16 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.59 CASP8 TNFSF10
17 response to denervation involved in regulation of muscle adaptation GO:0014894 9.58 DMD UTRN
18 positive regulation of ceramide biosynthetic process GO:2000304 9.58 TNF TNFRSF1A
19 execution phase of apoptosis GO:0097194 9.58 CASP2 CASP6 CASP8
20 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.56 APAF1 CASP9
21 regulation of establishment of endothelial barrier GO:1903140 9.55 TNF TNFRSF1A
22 response to cobalt ion GO:0032025 9.52 CASP8 CASP9
23 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.46 CASP2 CASP9 TNF TNFRSF1A
24 death-inducing signaling complex assembly GO:0071550 9.13 CASP8 TNF TNFRSF1A
25 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.02 APAF1 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 9.85 APAF1 CASP2 CASP6 CASP8 TNF TNFSF10
2 peptidase activity GO:0008233 9.76 CASP2 CASP6 CASP8 CASP9
3 cysteine-type peptidase activity GO:0008234 9.56 CASP2 CASP6 CASP8 CASP9
4 vinculin binding GO:0017166 9.43 DMD UTRN
5 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.4 CASP8 CASP9
6 tumor necrosis factor receptor binding GO:0005164 9.33 CASP8 TNF TNFSF10
7 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.32 CASP2 CASP6
8 cysteine-type endopeptidase activity GO:0004197 9.26 CASP2 CASP6 CASP8 CASP9
9 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 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....