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
CUI: C0004604
Disease: Back Pain
Back Pain
0.010 Biomarker phenotype BEFREE The approach using low BMD or back pain had the highest sensitivity (75%), lowest specificity (64%), lowest PPV (20%), and highest NPV (95%). 31742768 2020
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism
0.010 Biomarker disease BEFREE Moreover, BMD at the lower distal and ultradistal forearms might be affected by subclinical hyperthyroidism, and higher femur neck BMD could be affected by subclinical hypothyroidism. 31721088 2020
CUI: C3203509
Disease: Neuropsychiatric syndrome
Neuropsychiatric syndrome
0.010 AlteredExpression disease BEFREE Dystrophin protein 71 (Dp71) is the major DMD gene product expressed in the brain and mutations affecting its expression are associated with the DMD neuropsychiatric syndrome. 31836945 2020
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder
0.010 Biomarker group BEFREE If our results are confirmed in prospective studies, SIB could be used-together with BMD and TBS-to improve the fracture risk assessment and support the clinical decision to assume specific drugs for metabolic bone diseases. 31805121 2019
CUI: C0010246
Disease: Coxsackievirus Infections
Coxsackievirus Infections
0.010 Biomarker group BEFREE The mechanism of myocyte injury by coxsackie virus was identified in protease 2A coded by the virus and disrupting the dystrophin in the cytoskeleton. 31378380 2019
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome
0.010 Biomarker disease BEFREE Subtle cortisol excess in premenopausal women and reduced DHEA-S in postmenopausal women and men may contribute to BMD reduction in Asians with SH. 30719548 2019
CUI: C0011608
Disease: Dermatitis Herpetiformis
Dermatitis Herpetiformis
0.010 Biomarker disease BEFREE Abbreviations: AGA: anti-gliadin antibodies; Anti-DGP-ab: anti-deamidated gliadin peptide antibodies; Anti-tTG-ab: anti-tissue transglutaminase antibodies; ATD: auto-immune thyroid disorders; BMD: bone mineral density; CD: coeliac disease; DH: dermatitis herpetiformis; EMA: anti-endomysial antibodies; FDR: first-degree relatives; GFD: gluten-free diet; HbA1c: haemoglobin A1c; HLA: human leucocyte antigen; IBS: irritable bowel syndrome; LMIC: low- and middle-income countries; NPV: negative predictive value; NRCD: non-responsive coeliac disease; POCT: point-of-care tests; SDR: second-degree relatives; SIBO: small intestinal bacterial overgrowth; T1DM: type 1 diabetes mellitus; ULN: upper limit of normal. 30099930 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 Biomarker disease BEFREE Analysis of volumetric BMD in people with Down syndrome using DXA-based 3D modeling. 31494745 2019
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms
0.010 GeneticVariation group BEFREE Analysis of 318 STS by CGH array evidenced a frequent deletion affecting the <i>DMD</i> gene (encoding dystrophin isoforms) in 16.5% of STS, including sarcomas with complex genomics, gastrointestinal tumors (GIST), and synovial sarcomas (SS). 31266185 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
0.010 Biomarker disease BEFREE In, women with osteoporosis, abaloparatide increased BMD faster than TPTD and decreased fracture risk at both vertebral and non-vertebral sites but unlike TPTD/PTH did not increase resorption or hypercalcemia. 31136739 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 Biomarker disease BEFREE Extra attention towards frequent hyperglycemia in CF patients should be taken when evaluating decreased BMD. 30928333 2019
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.010 Biomarker disease BEFREE Abbreviations: AGA: anti-gliadin antibodies; Anti-DGP-ab: anti-deamidated gliadin peptide antibodies; Anti-tTG-ab: anti-tissue transglutaminase antibodies; ATD: auto-immune thyroid disorders; BMD: bone mineral density; CD: coeliac disease; DH: dermatitis herpetiformis; EMA: anti-endomysial antibodies; FDR: first-degree relatives; GFD: gluten-free diet; HbA1c: haemoglobin A1c; HLA: human leucocyte antigen; IBS: irritable bowel syndrome; LMIC: low- and middle-income countries; NPV: negative predictive value; NRCD: non-responsive coeliac disease; POCT: point-of-care tests; SDR: second-degree relatives; SIBO: small intestinal bacterial overgrowth; T1DM: type 1 diabetes mellitus; ULN: upper limit of normal. 30099930 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 Biomarker disease BEFREE Using dystrophin immunohistochemistry for membrane staining, human post-infarction myocardial tissue was assessed. 31417141 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
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: C0031099
Disease: Periodontitis
Periodontitis
0.010 GeneticVariation 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: C0036572
Disease: Seizures
Seizures
0.010 AlteredExpression phenotype BEFREE Status epilepticus (a prolonged seizure activity, SE) differently affects vasogenic edema formation and dystrophin-aquaporin 4 (AQP4) expressions between the rat hippocampus and the piriform cortex (PC). 31795399 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
0.010 Biomarker disease BEFREE Cytoskeletal proteins desmin and dystrophin were morphologically evaluated in the uvula muscle of 22 patients undergoing soft palate surgery due to snoring and sleep apnea and in 10 healthy controls. 30764835 2019
CUI: C0037384
Disease: Snoring
Snoring
0.010 Biomarker phenotype BEFREE Cytoskeletal proteins desmin and dystrophin were morphologically evaluated in the uvula muscle of 22 patients undergoing soft palate surgery due to snoring and sleep apnea and in 10 healthy controls. 30764835 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 GeneticVariation 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: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.010 Biomarker group BEFREE Abbreviations: AGA: anti-gliadin antibodies; Anti-DGP-ab: anti-deamidated gliadin peptide antibodies; Anti-tTG-ab: anti-tissue transglutaminase antibodies; ATD: auto-immune thyroid disorders; BMD: bone mineral density; CD: coeliac disease; DH: dermatitis herpetiformis; EMA: anti-endomysial antibodies; FDR: first-degree relatives; GFD: gluten-free diet; HbA1c: haemoglobin A1c; HLA: human leucocyte antigen; IBS: irritable bowel syndrome; LMIC: low- and middle-income countries; NPV: negative predictive value; NRCD: non-responsive coeliac disease; POCT: point-of-care tests; SDR: second-degree relatives; SIBO: small intestinal bacterial overgrowth; T1DM: type 1 diabetes mellitus; ULN: upper limit of normal. 30099930 2019
CUI: C0085109
Disease: Corneal Neovascularization
Corneal Neovascularization
0.010 Biomarker disease BEFREE These results suggest that dystrophin Dp71 could play an important role as a negative regulator of corneal angiogenesis. 31814696 2019
CUI: C0152256
Disease: Disuse osteoporosis
Disuse osteoporosis
0.010 Biomarker disease BEFREE Retrospective chart review of IV BP for treatment of disuse osteoporosis and low BMD in children with SMA at a tertiary pediatric center from 2010 to 2018 RESULTS: Eight patients (50% female; 75% SMA type 1; median age at first infusion 6.7 years) receiving a total of 39 infusions (54% pamidronate, 46% zoledronic acid) were included in this report. 31788718 2019
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.010 Biomarker disease BEFREE In Duchenne and Becker muscular dystrophies (DMD, BMD) cortical atrophy is associated with minimal ventricular dilatation and WM abnormalities. 31105770 2019
CUI: C0241705
Disease: Difficulty passing urine
Difficulty passing urine
0.010 AlteredExpression phenotype BEFREE Dystrophin is expressed in smooth muscle cells and afferent nerve fibers in the urinary bladder, which underscores that micturition problems in DMD may have not solely a myogenic but also a neurogenic origin.Muscle Nerve 60: 202-210, 2019. 31095755 2019
CUI: C0264733
Disease: Ventricular dilatation (disorder)
Ventricular dilatation (disorder)
0.010 Biomarker disease BEFREE In Duchenne and Becker muscular dystrophies (DMD, BMD) cortical atrophy is associated with minimal ventricular dilatation and WM abnormalities. 31105770 2019