chrX:31119219:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chrX:31,137,336-33,357,726 
hg38 chrX:31,119,219-33,339,609

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.138 Cardiomyopathy, Dilated NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 celiac disease NA BeFree Detail
<0.001 Congenital cataract NA BeFree Detail
<0.001 Contracture NA BeFree Detail
0.001 cystic fibrosis NA BeFree Detail
<0.001 dermatomyositis NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.730 Muscular Dystrophy, Duchenne To determine whether the progression of muscular dystrophy is a consequence of t... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24781208 Detail
0.730 Muscular Dystrophy, Duchenne The reading frame rule explains that out-of-frame deletions lead to muscle dystr... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24871807 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24879640 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is the most common inherited muscular disease ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24892813 Detail
0.730 Muscular Dystrophy, Duchenne Biomarkers identified in serum from two independent dystrophin-deficient mouse m... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25027324 Detail
0.730 Muscular Dystrophy, Duchenne However, how much dystrophin is required to rescue the DMD phenotype remains an ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25047667 Detail
0.730 Muscular Dystrophy, Duchenne Mutations in dystrophin lead to Duchenne muscular dystrophy, which is among the ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25082828 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disease... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25196347 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25200009 Detail
0.730 Muscular Dystrophy, Duchenne Analyses of the presence of mutations in Dystrophin protein to predict their rel... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25220406 Detail
0.730 Muscular Dystrophy, Duchenne An emerging therapeutic approach for Duchenne muscular dystrophy is the transpla... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25310255 Detail
0.730 Muscular Dystrophy, Duchenne In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce in... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25348330 Detail
0.730 Muscular Dystrophy, Duchenne Precise correction of the dystrophin gene in duchenne muscular dystrophy patient... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25434822 Detail
0.730 Muscular Dystrophy, Duchenne Correction of dystrophin expression in cells from Duchenne muscular dystrophy pa... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25492562 Detail
0.730 Muscular Dystrophy, Duchenne Utrophin, a dystrophin ortholog that is normally localized to the neuromuscular ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25504048 Detail
0.730 Muscular Dystrophy, Duchenne Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into le... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25612243 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is a fatal X-chromosome linked recessive disor... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25669899 Detail
0.730 Muscular Dystrophy, Duchenne Additionally, three studies reported a higher prevalence of epilepsy in DMD, sug... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25677308 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disease caused by... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25710459 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder caused by mu... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25758104 Detail
0.730 Muscular Dystrophy, Duchenne Novel therapeutic approaches are emerging to restore dystrophin function in Duch... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25761239 Detail
0.730 Muscular Dystrophy, Duchenne In animal models of DMD disturbed Purkinje cell function has been shown followin... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25973604 Detail
0.730 Muscular Dystrophy, Duchenne Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 26152642 Detail
<0.001 Enterovirus Infections NA BeFree Detail
<0.001 epilepsy Additionally, three studies reported a higher prevalence of epilepsy in DMD, sug... BeFree 25677308 Detail
0.001 Exanthema Most of mutations in the dystrophin gene were localized in the hot spots - diffe... BeFree 25482253 Detail
<0.001 fragile X syndrome The human X chromosome carries regions prone to genomic instability: deletions i... BeFree 23574351 Detail
<0.001 Galactosemias NA BeFree Detail
<0.001 Gigantism NA BeFree Detail
<0.001 Glioma NA BeFree Detail
<0.001 chronic granulomatous disease NA BeFree Detail
0.001 Heart Diseases NA BeFree Detail
0.120 Cardiomegaly NA CTD_human Detail
0.003 Heart failure microRNA-340-5p Functions Downstream of Cardiotrophin-1 to Regulate Cardiac Ecce... BeFree 26084457 Detail
0.004 congestive heart failure microRNA-340-5p Functions Downstream of Cardiotrophin-1 to Regulate Cardiac Ecce... BeFree 26084457 Detail
<0.001 Hepatolenticular Degeneration NA BeFree Detail
<0.001 Huntington disease NA BeFree Detail
<0.001 Hypertensive disease NA BeFree Detail
<0.001 Ichthyoses We report on a family with two affected boys, the elder diagnosed with fragile X... BeFree 23574351 Detail
<0.001 Congenital ichthyosis We report on a family with two affected boys, the elder diagnosed with fragile X... BeFree 23574351 Detail
0.001 Immunologic Deficiency Syndromes Furthermore, transplantation of corrected cells into immunodeficient mice result... BeFree 25492562 Detail
<0.001 ischemia NA BeFree Detail
<0.001 Kyphosis deformity of spine NA BeFree Detail
0.120 leiomyosarcoma NA CTD_human Detail
0.003 chronic lymphocytic leukemia NA LHGDN Detail
<0.001 Malignant hyperpyrexia due to anesthesia NA BeFree Detail
0.003 melanoma NA BeFree,LHGDN Detail
0.008 Mental Retardation NA BeFree,GAD Detail
<0.001 Muscle Cramp NA BeFree Detail
<0.001 Muscle Rigidity NA BeFree Detail
0.007 muscular atrophy The loss of dystrophin or its associated proteins results in the development of ... BeFree 24645914 Detail
0.007 muscular atrophy Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused... BeFree 24879640 Detail
0.007 muscular atrophy Phosphorylation within the cysteine-rich region of dystrophin enhances its assoc... BeFree 25082828 Detail
0.007 muscular atrophy Novel therapeutic approaches are emerging to restore dystrophin function in Duch... BeFree 25761239 Detail
0.007 muscular atrophy Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused... BeFree 26152642 Detail
0.001 spinal muscular atrophy NA BeFree Detail
0.013 myopathy The results are encouraging for treatment of dystrophin-deficient muscle disease... BeFree 25322757 Detail
0.223 muscular dystrophy To determine whether the progression of muscular dystrophy is a consequence of t... BeFree,CTD_human,GAD,LHGDN 24781208 Detail
0.223 muscular dystrophy Through these cases, we discussed the challenges of genetic counseling in the fa... BeFree,CTD_human,GAD,LHGDN 24835530 Detail
0.223 muscular dystrophy Genes mutated in muscular dystrophies encode proteins of the plasma membrane and... BeFree,CTD_human,GAD,LHGDN 25086336 Detail
0.223 muscular dystrophy Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactiv... BeFree,CTD_human,GAD,LHGDN 26676145 Detail
0.120 Muscular Dystrophy, Animal NA CTD_human Detail
<0.001 myositis NA BeFree Detail
0.004 Myotonic dystrophy NA BeFree,LHGDN Detail
0.120 Necrosis NA CTD_human Detail
0.120 Neoplasm Invasiveness NA CTD_human Detail
0.120 Neoplasm Metastasis NA CTD_human Detail
0.009 Neuromuscular Diseases Novel therapeutic approaches are emerging to restore dystrophin function in Duch... BeFree,LHGDN 25761239 Detail
0.001 osteogenesis imperfecta NA BeFree Detail
0.010 osteoporosis In women with osteoporosis and osteopenia homozygous AA genotype may predispose ... BeFree,GAD 25980946 Detail
<0.001 Osteoporosis, Postmenopausal NA BeFree Detail
<0.001 osteosclerosis NA BeFree Detail
0.005 Paresis NA BeFree Detail
0.120 polycystic ovary syndrome NA CTD_human Detail
<0.001 Protein Deficiency NA BeFree Detail
<0.001 retinal degeneration NA BeFree Detail
0.001 schizophrenia NA BeFree Detail
<0.001 Myocardial Diseases, Secondary NA BeFree Detail
<0.001 Seizures NA BeFree Detail
<0.001 Severe mental retardation (I.Q. 20-34) NA BeFree Detail
0.200 status epilepticus NA CTD_human,RGD Detail
<0.001 Turner syndrome NA BeFree Detail
<0.001 Vascular Diseases Dystrophin and synaptopodin 2 were selected for further analysis in models of ph... BeFree 25857312 Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 Ichthyosis, X-Linked The human X chromosome carries regions prone to genomic instability: deletions i... BeFree 23574351 Detail
<0.001 motor neuron disease NA BeFree Detail
<0.001 Ovarian Failure, Premature NA BeFree Detail
<0.001 polymyositis NA BeFree Detail
<0.001 Rous Sarcoma NA BeFree Detail
<0.001 Myocardial Ischemia NA BeFree Detail
0.005 Muscle Weakness NA BeFree Detail
<0.001 retinoschisis NA BeFree Detail
<0.001 acute myocardial infarction NA BeFree Detail
<0.001 acute myocarditis NA BeFree Detail
<0.001 Idiopathic osteoporosis NA BeFree Detail
<0.001 nephrogenic diabetes insipidus NA BeFree Detail
<0.001 centronuclear myopathy NA BeFree Detail
<0.001 Tumor Progression NA BeFree Detail
0.120 Rhabdomyosarcoma, Embryonal NA BeFree,CTD_human Detail
0.002 Congenital hypoplasia of adrenal gland NA BeFree Detail
<0.001 Adult type dermatomyositis NA BeFree Detail
<0.001 Myalgia NA BeFree Detail
0.005 Muscle degeneration Absence or reduced expression of dystrophin or many of the DPC components cause ... BeFree 26676145 Detail
<0.001 pancreatic carcinoma NA BeFree Detail
0.120 Gastrointestinal Stromal Tumors NA BeFree,CTD_human Detail
0.004 Muscular Dystrophy, Facioscapulohumeral NA BeFree,LHGDN Detail
<0.001 Deformity of limb NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Gonadal Dysgenesis, 45,X NA BeFree Detail
0.002 Ventricular Dysfunction, Left NA GAD Detail
0.120 Ventricular Dysfunction NA CTD_human Detail
<0.001 congenital kyphosis NA BeFree Detail
<0.001 Congenital absence of adrenal gland NA BeFree Detail
<0.001 Classical galactosemia NA BeFree Detail
<0.001 Deficiency of glycerol kinase NA BeFree Detail
<0.001 Gitelman syndrome NA BeFree Detail
<0.001 Ocular albinism, type II NA BeFree Detail
<0.001 ornithine carbamoyltransferase deficiency NA BeFree Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency NA BeFree Detail
<0.001 Spastic syndrome NA BeFree Detail
<0.001 Peripheral demyelinating neuropathy NA BeFree Detail
<0.001 Congenital myopathy (disorder) NA BeFree Detail
<0.001 Retinoschisis, Juvenile, X-Linked NA BeFree Detail
<0.001 Superficial ulcer NA BeFree Detail
<0.001 fibrous meningioma NA BeFree Detail
0.002 Impaired cognition NA BeFree Detail
<0.001 X-linked retinitis pigmentosa NA BeFree Detail
0.001 Familial dilated cardiomyopathy NA BeFree Detail
<0.001 Dystrophic cardiomyopathy NA BeFree Detail
<0.001 Hypoparathyroidism - autosomal dominant NA BeFree Detail
<0.001 Keratosis pilaris decalvans NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Ischemic cardiomyopathy NA BeFree Detail
<0.001 Diffuse malignant mesothelioma NA BeFree Detail
<0.001 Blood group deletion syndrome NA BeFree Detail
0.002 Muscle damage The mechanism of muscle damage is reviewed starting from disarray of the shock-a... BeFree 25086336 Detail
0.002 Muscle damage It has been reported that DM1 patients show elevated levels of markers of muscle... BeFree 25799359 Detail
0.002 Muscle damage Absence or reduced expression of dystrophin or many of the DPC components cause ... BeFree 26676145 Detail
<0.001 X-linked muscular dystrophy with abnormal dystrophin NA BeFree Detail
<0.001 Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) NA BeFree Detail
0.002 Fukuyama Type Congenital Muscular Dystrophy NA BeFree Detail
<0.001 Scleroatonic muscular dystrophy NA BeFree Detail
<0.001 Myopathy with abnormal lipid metabolism NA BeFree Detail
0.001 Congenital Myotonic Dystrophy NA BeFree Detail
<0.001 pseudoachondroplasia NA BeFree Detail
<0.001 Developmental delay (disorder) We report here five cases of CNVs involving the dystrophin gene detected by aCGH... BeFree 24835530 Detail
<0.001 Aplasia of muscle Finding the mechanisms that protect some rare patients and dogs from the deleter... BeFree 25047667 Detail
0.001 Severe childhood autosomal recessive muscular dystrophy NA BeFree Detail
0.002 Hematocrit level NA GAD Detail
<0.001 Mood Disorders NA BeFree Detail
<0.001 Fluid overload Luciferase assay constructed in two seed sequence of DMD gene 3'UTR showed decre... BeFree 26084457 Detail
<0.001 3-Methylglutaconic aciduria type 2 NA BeFree Detail
<0.001 Weakness of limb NA BeFree Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
<0.001 Mental impairment NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
0.008 Muscular Dystrophies, Limb-Girdle NA BeFree Detail
<0.001 CNS metastases NA BeFree Detail
0.002 Congenital muscular dystrophy (disorder) NA BeFree Detail
<0.001 Dissecting aneurysm of the thoracic aorta NA BeFree Detail
0.001 Spots on skin Most of mutations in the dystrophin gene were localized in the hot spots - diffe... BeFree 25482253 Detail
<0.001 21-hydroxylase deficiency NA BeFree Detail
<0.001 Muscle fibrosis NA BeFree Detail
0.131 Cardiomyopathies The loss of dystrophin or its associated proteins results in the development of ... BeFree,CTD_human,GAD 24645914 Detail
0.131 Cardiomyopathies Repeated peptide-AO treatments resulted in high levels of cardiac dystrophin pro... BeFree,CTD_human,GAD 25758104 Detail
0.498 Becker muscular dystrophy The human X chromosome carries regions prone to genomic instability: deletions i... BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT 23574351 Detail
0.498 Becker muscular dystrophy Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting ... BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT 25322757 Detail
0.498 Becker muscular dystrophy Becker muscular dystrophy severity is linked to the structure of dystrophin. BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT 25348330 Detail
0.498 Becker muscular dystrophy Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into le... BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT 25612243 Detail
0.498 Becker muscular dystrophy Studying the role of dystrophin-associated proteins in influencing Becker muscul... BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT 25633150 Detail
0.498 Becker muscular dystrophy Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to... BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT 26022172 Detail
<0.001 High weight NA BeFree Detail
<0.001 respiratory failure NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
<0.001 attention deficit hyperactivity disorder NA BeFree Detail
<0.001 Mild cognitive disorder NA BeFree Detail
0.001 Degenerative disorder NA BeFree Detail
0.001 Cardiomyopathy, Familial Idiopathic NA BeFree Detail
<0.001 Desmoplastic NA BeFree Detail
0.080 brain edema NA RGD Detail
<0.001 Disorder of skeletal muscle NA BeFree Detail
<0.001 Cardiomyopathy associated with another disorder NA BeFree Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
<0.001 Bethlem myopathy NA BeFree Detail
<0.001 Malformations of Cortical Development, Group II NA BeFree Detail
<0.001 IMMUNE SUPPRESSION NA BeFree Detail
<0.001 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A NA BeFree Detail
<0.001 lateral meningocele syndrome NA BeFree Detail
0.001 Craniometaphyseal dysplasia, autosomal dominant NA BeFree Detail
<0.001 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1 Further gene-based analysis of DMD revealed suggestive association (P-values = 0... BeFree 25227141 Detail
<0.001 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE NA BeFree Detail
<0.001 myofibrillar myopathy NA BeFree Detail
<0.001 Placental Steroid Sulfatase Deficiency The human X chromosome carries regions prone to genomic instability: deletions i... BeFree 23574351 Detail
<0.001 Beta-sarcoglycanopathy NA BeFree Detail
<0.001 Dysferlinopathy NA BeFree Detail
0.001 Sarcoglycanopathies NA BeFree Detail
<0.001 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NA BeFree Detail
0.031 Duchenne and Becker muscular dystrophy The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) re... BeFree 25037084 Detail
0.031 Duchenne and Becker muscular dystrophy Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are ... BeFree 25076844 Detail
0.031 Duchenne and Becker muscular dystrophy MLPA based detection of mutations in the dystrophin gene of 180 Polish families ... BeFree 25482253 Detail
0.031 Duchenne and Becker muscular dystrophy Currently, there is no cure for Duchenne and Becker muscular dystrophies (DMD/BM... BeFree 25612904 Detail
0.031 Duchenne and Becker muscular dystrophy Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscul... BeFree 25702278 Detail
0.372 Dmd-Associated Dilated Cardiomyopathy Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomy... BeFree,CLINVAR,CTD_human,GAD,UNIPROT 25340340 Detail
<0.001 intellectual disability NA BeFree Detail
<0.001 Burn out (Psychology) These challenges include: poverty, inadequate multidisciplinary care, emotional ... BeFree 25838855 Detail
<0.001 Osteoporosis, Age-Related NA BeFree Detail
0.002 amyotrophic lateral sclerosis NA GAD Detail
<0.001 arteriosclerosis NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
<0.001 atherosclerosis NA BeFree Detail
<0.001 Mental disorders NA BeFree Detail
0.002 Bone Marrow Diseases NA GAD Detail
0.003 Brain Neoplasms NA BeFree,LHGDN Detail
0.120 calcinosis NA CTD_human Detail
Annotation

Annotations

DescrptionSourceLinks
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To determine whether the progression of muscular dystrophy is a consequence of the decline in functi... DisGeNET Detail
The reading frame rule explains that out-of-frame deletions lead to muscle dystrophin deficiency in ... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by mutations in dys... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is the most common inherited muscular disease and caused by mutati... DisGeNET Detail
Biomarkers identified in serum from two independent dystrophin-deficient mouse models (mdx-Δ52 and m... DisGeNET Detail
However, how much dystrophin is required to rescue the DMD phenotype remains an open question. DisGeNET Detail
Mutations in dystrophin lead to Duchenne muscular dystrophy, which is among the most common human ge... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disease caused by mutation ... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by mutations in the dys... DisGeNET Detail
Analyses of the presence of mutations in Dystrophin protein to predict their relative influences in ... DisGeNET Detail
An emerging therapeutic approach for Duchenne muscular dystrophy is the transplantation of autologou... DisGeNET Detail
In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated p... DisGeNET Detail
Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent... DisGeNET Detail
Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genom... DisGeNET Detail
Utrophin, a dystrophin ortholog that is normally localized to the neuromuscular junction, is natural... DisGeNET Detail
Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker mus... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is a fatal X-chromosome linked recessive disorder caused by the tr... DisGeNET Detail
Additionally, three studies reported a higher prevalence of epilepsy in DMD, suggesting that the abs... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disease caused by dystrophin deficien... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder caused by mutations in the Dmd g... DisGeNET Detail
Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystro... DisGeNET Detail
In animal models of DMD disturbed Purkinje cell function has been shown following loss of dystrophin... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by mutations in the... DisGeNET Detail
NA DisGeNET Detail
Additionally, three studies reported a higher prevalence of epilepsy in DMD, suggesting that the abs... DisGeNET Detail
Most of mutations in the dystrophin gene were localized in the hot spots - different for deletions a... DisGeNET Detail
The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region... DisGeNET Detail
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microRNA-340-5p Functions Downstream of Cardiotrophin-1 to Regulate Cardiac Eccentric Hypertrophy an... DisGeNET Detail
microRNA-340-5p Functions Downstream of Cardiotrophin-1 to Regulate Cardiac Eccentric Hypertrophy an... DisGeNET Detail
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We report on a family with two affected boys, the elder diagnosed with fragile X syndrome, the young... DisGeNET Detail
We report on a family with two affected boys, the elder diagnosed with fragile X syndrome, the young... DisGeNET Detail
Furthermore, transplantation of corrected cells into immunodeficient mice resulted in human dystroph... DisGeNET Detail
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The loss of dystrophin or its associated proteins results in the development of muscle wasting frequ... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by mutations in dys... DisGeNET Detail
Phosphorylation within the cysteine-rich region of dystrophin enhances its association with β-dystro... DisGeNET Detail
Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystro... DisGeNET Detail
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by mutations in the... DisGeNET Detail
NA DisGeNET Detail
The results are encouraging for treatment of dystrophin-deficient muscle diseases. DisGeNET Detail
To determine whether the progression of muscular dystrophy is a consequence of the decline in functi... DisGeNET Detail
Through these cases, we discussed the challenges of genetic counseling in the family, regarding the ... DisGeNET Detail
Genes mutated in muscular dystrophies encode proteins of the plasma membrane and extracellular matri... DisGeNET Detail
Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, an... DisGeNET Detail
NA DisGeNET Detail
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Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystro... DisGeNET Detail
NA DisGeNET Detail
In women with osteoporosis and osteopenia homozygous AA genotype may predispose to lower BMD in the ... DisGeNET Detail
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Dystrophin and synaptopodin 2 were selected for further analysis in models of phenotypic modulation ... DisGeNET Detail
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The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region... DisGeNET Detail
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Absence or reduced expression of dystrophin or many of the DPC components cause the muscular dystrop... DisGeNET Detail
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The mechanism of muscle damage is reviewed starting from disarray of the shock-absorbing dystrophin-... DisGeNET Detail
It has been reported that DM1 patients show elevated levels of markers of muscle damage or loss of s... DisGeNET Detail
Absence or reduced expression of dystrophin or many of the DPC components cause the muscular dystrop... DisGeNET Detail
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We report here five cases of CNVs involving the dystrophin gene detected by aCGH in girls referred f... DisGeNET Detail
Finding the mechanisms that protect some rare patients and dogs from the deleterious effect of absen... DisGeNET Detail
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Luciferase assay constructed in two seed sequence of DMD gene 3'UTR showed decreased luciferase acti... DisGeNET Detail
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Most of mutations in the dystrophin gene were localized in the hot spots - different for deletions a... DisGeNET Detail
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The loss of dystrophin or its associated proteins results in the development of muscle wasting frequ... DisGeNET Detail
Repeated peptide-AO treatments resulted in high levels of cardiac dystrophin protein, which prevente... DisGeNET Detail
The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region... DisGeNET Detail
Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutati... DisGeNET Detail
Becker muscular dystrophy severity is linked to the structure of dystrophin. DisGeNET Detail
Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker mus... DisGeNET Detail
Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease... DisGeNET Detail
Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered e... DisGeNET Detail
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Further gene-based analysis of DMD revealed suggestive association (P-values = 0.087 and 0.074) with... DisGeNET Detail
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The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region... DisGeNET Detail
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The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most com... DisGeNET Detail
Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo ... DisGeNET Detail
MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker... DisGeNET Detail
Currently, there is no cure for Duchenne and Becker muscular dystrophies (DMD/BMD). DisGeNET Detail
Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using... DisGeNET Detail
Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases pro... DisGeNET Detail
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These challenges include: poverty, inadequate multidisciplinary care, emotional burn-out of parents ... DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chrX:31,119,219-33,339,609
Variant Type
snv
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