Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 574501
Gene Symbol: MIR499A
MIR499A
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE Our data revealed that miR-499 was significantly upregulated in all DMD patients, and true carriers (mothers), while 78 % of potential carriers (sisters) exhibited high levels of this miRNA. 31838454

2020

Entrez Id: 27352
Gene Symbol: SGSM3
SGSM3
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE The objective this study was to evaluate the potential use of the GDI and GPS and MAP using data from 3D gait analysis of DMD patients. 31771784

2020

Entrez Id: 1993
Gene Symbol: ELAVL2
ELAVL2
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE DEGs and hub genes identified in the present study help us understand the molecular mechanisms underlying the pathogenesis and progression of DMD, and provide candidate targets for treatment of DMD. 31390219

2020

Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE Blockade of IGF2R by neutralizing antibodies stimulated muscle regeneration, induced force recovery and normalized capillary architecture in dystrophic mdx mice representing an encouraging starting point for the development of new biological therapies for DMD. 31793167

2020

Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE In this study, we evaluated the effect of α-methyl-prednisolone (PDN) on the expression of the angiogenic marker HIF1α, VEGFA and VEGFR-2 (FLK1) in correlation with PKC expression in the brain of mdx mouse, an experimental model of DMD. 30711624

2019

Entrez Id: 4319
Gene Symbol: MMP10
MMP10
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE MMP1, MMP7, and MMP10 were higher in DMD than in control (respectively, median 5080 pg/mL vs 2120 pg/mL [P = .007], 2170 pg/mL vs 1420 pg/mL [P < .001], and 216 pg/mL vs 140pg/mL [P = .040]); TIMP4 was lower in DMD (124 pg/mL vs 263 pg/mL; P = .046). 30763738

2019

Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE This study examined the effects of intermittent, daily administered parathyroid hormone (iPTH), an approved bone anabolic therapy, on growing bone and dystrophic muscle in the presence and absence of prednisone treatment using the Mdx mouse model of DMD. 30716510

2019

Entrez Id: 58506
Gene Symbol: SCAF1
SCAF1
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE Therefore, the development of a drug delivery system targeting SR-A1 could lead to highly efficient exon-skipping therapies for DMD. 30763772

2019

Entrez Id: 5081
Gene Symbol: PAX7
PAX7
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE We found that myogenic cells derived from extra eyelid tissue proliferated and differentiated myofibers in vitro, and restored DYSTROPHIN or PAX7 expression after transplantation with these cells in mice with Duchenne muscular dystrophy. 31337111

2019

Entrez Id: 6002
Gene Symbol: RGS12
RGS12
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE However, when mice lacking skeletal muscle expression of Rgs12 were cross-bred with mdx mice (a model of human Duchenne muscular dystrophy), no increase in muscle degeneration was observed over time. 31408461

2019

Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 GeneticVariation BEFREE These results suggest that the reduction of Dp71 protein in the Duchenne muscular dystrophy neurons leads to alterations in SERCA2 and to elevated cytosolic Ca<sup>2+</sup> concentration with consequent potential disruption of the dystrophin proteins and Dp71-associated proteins. 30646960

2019

Entrez Id: 406938
Gene Symbol: MIR146A
MIR146A
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE Nevertheless, the lack of miR-146a is associated with decreased Vegfa and increased Tgfb1.Overall, the lack of miR-146a did not aggravate significantly the dystrophic conditions in mdx mice, but its effect on DMD in more severe conditions warrants further investigation. 31412923

2019

Entrez Id: 7079
Gene Symbol: TIMP4
TIMP4
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE MMP1, MMP7, and MMP10 were higher in DMD than in control (respectively, median 5080 pg/mL vs 2120 pg/mL [P = .007], 2170 pg/mL vs 1420 pg/mL [P < .001], and 216 pg/mL vs 140pg/mL [P = .040]); TIMP4 was lower in DMD (124 pg/mL vs 263 pg/mL; P = .046). 30763738

2019

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE In this study, we evaluated the effect of α-methyl-prednisolone (PDN) on the expression of the angiogenic marker HIF1α, VEGFA and VEGFR-2 (FLK1) in correlation with PKC expression in the brain of mdx mouse, an experimental model of DMD. 30711624

2019

Entrez Id: 100033819
Gene Symbol: MIR675
MIR675
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE sPIF promotes myoblast differentiation and utrophin expression while inhibiting fibrosis in Duchenne muscular dystrophy via the H19/miR-675/let-7 and miR-21 pathways. 30692507

2019

Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 GeneticVariation 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: 26291
Gene Symbol: FGF21
FGF21
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE We hypothesize that muscle-derived FGF-21 negatively affects bone homeostasis in DMD. 31800971

2019

Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE In this study, we evaluated the effect of α-methyl-prednisolone (PDN) on the expression of the angiogenic marker HIF1α, VEGFA and VEGFR-2 (FLK1) in correlation with PKC expression in the brain of mdx mouse, an experimental model of DMD. 30711624

2019

Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE G-SCF decreased the aminotransferases activity, cholesterol level, and glucose level in patients with DMD, which may be important for patients with DMD and metabolic syndrome. 31001554

2019

Entrez Id: 4610
Gene Symbol: MYCL
MYCL
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 GeneticVariation BEFREE Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. 31465894

2019

Entrez Id: 4282
Gene Symbol: MIF
MIF
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 GeneticVariation BEFREE Transcriptomic Analysis Reveals Involvement of the Macrophage Migration Inhibitory Factor Gene Network in Duchenne Muscular Dystrophy. 31752120

2019

Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 AlteredExpression BEFREE In this study, we evaluated the effect of α-methyl-prednisolone (PDN) on the expression of the angiogenic marker HIF1α, VEGFA and VEGFR-2 (FLK1) in correlation with PKC expression in the brain of mdx mouse, an experimental model of DMD. 30711624

2019

Entrez Id: 57674
Gene Symbol: RNF213
RNF213
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 GeneticVariation BEFREE Three female family members carried the same disease-causing mutations, c.9953_9954delAG of DMD and c.14429G>A of RNF213. 31347299

2019

Entrez Id: 148738
Gene Symbol: HJV
HJV
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker BEFREE Novel therapeutic strategies could potentially be devised to interfere only with the muscle function of HJV to treat DMD and age-related muscle wasting. 30884219

2019

Entrez Id: 139604
Gene Symbol: MAGEB16
MAGEB16
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 GeneticVariation BEFREE One patient had a 7.15-Mb contiguous deletion involving the NR0B1, Duchenne muscular dystrophy (DMD), glycerol kinase (GK) and melanoma antigen, family B, 16 (MAGEB16) genes. 31219797

2019