DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
(Idiopathic) normal pressure hydrocephalus
0.010 Biomarker disease BEFREE Astrogliosis and impaired aquaporin-4 and dystrophin systems in idiopathic normal pressure hydrocephalus. 28627088 2018
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 Biomarker disease HPO
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
0.010 GeneticVariation disease BEFREE Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21. 7616547 1995
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 GeneticVariation phenotype BEFREE Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. 26365034 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 Biomarker phenotype BEFREE In this study, we undertook a large-scale behavioral study to evaluate fear-related behavioral disturbances in dystrophin-deficient mdx mice. 28087735 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.030 AlteredExpression phenotype BEFREE Two alternative hypotheses are proposed to explain such an association: (1) the existence of a susceptibility locus for schizophrenia and spectrum disorders on the short arm of the X chromosome at Xp21; (2) that these psychiatric disorders may result from an abnormality in the expression of the dystrophin gene in the brain. 8445617 1993
Abnormal muscle fiber dystrophin expression
0.100 CausalMutation phenotype CLINVAR
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
0.010 GeneticVariation disease BEFREE We found a significant association between renal malformation and the rs9536282 (<i>KL</i>) variant and between rs4646536 (<i>CYP27B1</i>) and low-BMD, these variants may have modest effects on these characteristics but contribute to the variability of the TS phenotype. 30887870 2019
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 AlteredExpression disease BEFREE Eighteen females showing a mosaic pattern of dystrophin expression on muscle biopsy were recruited and classified as symptomatic (7) or asymptomatic (11), based on the presence or absence of muscle weakness. 22894145 2012
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 Biomarker disease BEFREE Mutations in the DMD gene lead to the absence of muscle dystrophin and a progressive degeneration of skeletal muscle. 23168016 2012
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 Biomarker disease BEFREE We have previously identified two exceptional golden retriever muscular dystrophy (GRMD) dogs with a milder course despite the total absence of muscle dystrophin. 25047667 2014
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD), the most common lethal muscle wasting disease, is a result of an absence of muscle dystrophin. 17428346 2007
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.100 Biomarker phenotype HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
0.100 Biomarker phenotype HPO
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.010 Biomarker disease BEFREE The replication structure of the human dystrophin gene in cultured masculine erythroleukemia cells (line HEL 92.1.7) was studied using the replication direction assay. 9339357 1997
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 Biomarker disease BEFREE Our findings demonstrate a significantly higher proportion of active coxsackievirus B cardiovascular infections in patients who suddenly died of MI compared with matched control subjects, suggesting that these EVs may significantly contribute to the pathogenesis of acute MI by a focal disruption of the dystrophin-glycoprotein complex. 18061067 2007
CUI: C0155686
Disease: Acute myocarditis
Acute myocarditis
0.010 GeneticVariation disease BEFREE Young males presenting with apparent isolated cardiomyopathy or acute myocarditis may harbor dystrophin mutations without overt skeletal muscle pathology. 20206892 2010
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.010 Biomarker disease BEFREE Data from human diseases or dysfunctions identified 19 genes whose mutation was associated with human BMD: 9 genes each for human height and osteoporosis; 4 genes each for human osteoarthritis (OA) and fracture risk; and 2 genes each for adolescent idiopathic scoliosis (AIS), periodontitis, osteosarcoma growth, and tooth development. 31646011 2019
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.010 Biomarker disease BEFREE The replication structure of the human dystrophin gene in cultured masculine erythroleukemia cells (line HEL 92.1.7) was studied using the replication direction assay. 9339357 1997
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.050 Biomarker disease BEFREE In mice, the loss of either of two DGC proteins, dystrophin or α-sarcoglycan, is associated with a high incidence of rhabdomyosarcoma (RMS). 31054580 2019
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.050 AlteredExpression disease BEFREE Furthermore, the LNA-based SSO cocktails display high exon 51 skipping activities on endogenous DMD mRNA in human rhabdomyosarcoma cells. 29768479 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.050 Biomarker disease BEFREE CRISPR/Cas9-mediated gene editing of the DMD gene in the RD cell line will allow for assessment of SSOs targeting most of the rare mutations in the DMD gene. 29339778 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.050 AlteredExpression disease BEFREE This oligonucleotide strongly promoted exon 53 skipping in a dose-dependent manner during pre-mRNA splicing in rhabdomyosarcoma and DMD patient-derived cells, and it restored dystrophin protein levels in patient-derived cells. 30388618 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.050 Biomarker disease BEFREE Dystrophin inhibits myogenic sarcoma cell migration, invasion, anchorage independence and invadopodia formation, and dystrophin inactivation was found in 96%, 100% and 62% of metastatic GIST, embryonal RMS and LMS samples, respectively. 24793134 2014
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
0.020 Biomarker disease BEFREE This produced a 15-17-fold increase of DRP over normal in DMD/BMD and 4-10-fold increase over normal in PM and DM on immunoblots. 8440993 1993