Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 114
Gene Symbol: ADCY8
ADCY8
0.100 GeneticVariation disease GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611 2018
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.050 Biomarker disease BEFREE We have previously tested the implication of ApN in Duchenne muscular dystrophy (DMD) using mdx mice, a model of DMD, and by generating transgenic mdx mice overexpressing ApN. 28463682 2017
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.050 Biomarker disease BEFREE Downregulation of the NLRP3 inflammasome by adiponectin rescues Duchenne muscular dystrophy. 29558930 2018
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.050 Biomarker disease BEFREE These findings identify moderate intensity exercise as a means to improve muscle performance in the mdx DBA2J mice and suggest serum adiponectin as a biomarker for beneficial exercise effect in DMD. 30962487 2019
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.050 AlteredExpression disease BEFREE Profiling of secretory products revealed that ApN downregulated the secretion of two pro-inflammatory factors (TNFα and IL-17A), one soluble receptor (sTNFRII), and one chemokine (CCL28) in DMD myotubes, while upregulating IL-6 that exerts some anti-inflammatory effects. 28188344 2017
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.050 Biomarker disease BEFREE This review reports current knowledge about adiponectin in myopathies, regarding in particular the role of adiponectin in some hereditary myopathies (as Duchenne muscular dystrophy) and non-inherited/acquired myopathies (such as idiopathic inflammatory myopathies and fibromyalgia). 30934785 2019
Entrez Id: 133
Gene Symbol: ADM
ADM
0.010 Biomarker disease BEFREE In summary, ADMs delay or prevent development of DCM in dystrophin-deficient heart, but timing of stem cell transplantation may be critical for achieving benefit with cell therapy in DMD cardiac muscle. 23283493 2013
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
0.010 GeneticVariation disease BEFREE The purpose of this study was to identify the influence of ADRB2 genotype on the risk of NV use in DMD. 31619245 2019
Entrez Id: 177
Gene Symbol: AGER
AGER
0.010 Biomarker disease BEFREE Our results suggest that RAGE sustains muscle inflammation and necrosis in DMD muscles and that reducing RAGE activity might represent a potential therapeutic tool to counteract muscle inflammation and rescue muscle morphology in DMD conditions. 30085099 2018
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 GeneticVariation disease BEFREE We tested the additional combinatorial treatment containing the angiotensin II receptor blocker losartan (T), which is widely used to halt and treat the developing cardiac dysfunction in DMD patients as an alternative to an ACE inhibitor. 24551095 2014
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
0.010 AlteredExpression disease BEFREE Overall, these results highlight that activation of p38 in muscles can indeed lead to an attenuation of the dystrophic phenotype and reveal the potential role of celecoxib as a novel therapeutic agent for the treatment of DMD.-Péladeau, C., Adam, N. J., Jasmin, B. J. Celecoxib treatment improves muscle function in mdx mice and increases utrophin A expression. 29723037 2018
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
0.010 AlteredExpression disease BEFREE Overall, these results highlight that activation of p38 in muscles can indeed lead to an attenuation of the dystrophic phenotype and reveal the potential role of celecoxib as a novel therapeutic agent for the treatment of DMD.-Péladeau, C., Adam, N. J., Jasmin, B. J. Celecoxib treatment improves muscle function in mdx mice and increases utrophin A expression. 29723037 2018
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
0.020 Biomarker disease BEFREE These results suggest that this novel compound Ang-(1-7) might be used to improve quality of life and delay death in individuals with DMD and this drug should be investigated in further pre-clinical trials. 24163134 2014
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
0.020 Biomarker disease BEFREE The findings from this study shed new light on the functional effects of vascular therapy and suggest that ANG1 alone may be a candidate therapy in the treatment of DMD. 28334037 2017
Entrez Id: 324
Gene Symbol: APC
APC
0.020 Biomarker disease BEFREE Nonsense or frameshift mutations, which result in a truncated gene product, are prevalent in a variety of disease-related genes, including APC (implicated in colorectal cancer), BRCA1 and BRCA2 (breast and ovarian cancer), PKD1 (polycystic kidney disease), NF1 and NF2 (neurofibromatosis), and DMD (Duchenne muscular dystrophy). 12524552 2003
Entrez Id: 324
Gene Symbol: APC
APC
0.020 Biomarker disease BEFREE The results of analyses conducted on fragments of the DMD and APC genes correspond completely (100 %) with the results of previous studies. 24233542 2014
Entrez Id: 351
Gene Symbol: APP
APP
0.010 GeneticVariation disease BEFREE The utility of CRISPR/Cas9 coupled with viral transduction ranges from the disruption of amyloid precursor protein (APP) production at a genomic level in Alzheimer's disease (AD) to the deletion of varying exon portions of the Dmd gene in Duchenne muscular dystrophy (DMD) which would increase dystrophin expression. 30076486 2018
Entrez Id: 353
Gene Symbol: APRT
APRT
0.020 AlteredExpression disease BEFREE The pharmacological stimulation of AMP-activated protein kinase (AMPK) via metabolic enhancers has been proposed as potential therapeutic strategy for Duchenne muscular dystrophy (DMD). 29684379 2018
Entrez Id: 353
Gene Symbol: APRT
APRT
0.020 AlteredExpression disease BEFREE The biochemical activity of AMP deaminase did not decrease in muscle with mild pathologic change in patients with DMD and tended to decrease according to the progress of the disease. 3808228 1986
Entrez Id: 358
Gene Symbol: AQP1
AQP1
0.010 AlteredExpression disease BEFREE AQP1 transcript and protein expression was significantly elevated in DMD biopsies, and was localized to the sarcolemma of muscle fibers and endothelia of muscle capillaries. 18392839 2008
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.030 AlteredExpression disease BEFREE Muscle biopsies of patients with DMD (n = 8) and limb-girdle muscular dystrophy type 2B (LGMD2B; n = 5) were screened for AQP1 and AQP4 expression by real-time quantitative RT-PCR or Western blot and immunohistochemistry. 18392839 2008
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.030 Biomarker disease BEFREE Immunoblot analysis showed that the content of AQP4 in DMD muscles was remarkably decreased. 11890849 2002
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.030 AlteredExpression disease BEFREE Expression of AQP4 was reported to be reduced in muscle tissue from Duchenne muscular dystrophy patients. 15200272 2004
Entrez Id: 367
Gene Symbol: AR
AR
0.030 GeneticVariation disease BEFREE Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. 16528518 2006
Entrez Id: 367
Gene Symbol: AR
AR
0.030 Biomarker disease BEFREE We hypothesized that rapidly deteriorating health of pre-pubertal boys with DMD could be due to diminished anabolic actions of androgens in muscle, and that intervention with an androgen receptor (AR) agonist will reverse musculoskeletal complications and extend survival. 28453658 2017