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: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Aiming to identify genomic loci associated with BMD variation at TRO and INT regions, we performed a GWAS utilizing the Framingham Heart Study (FHS, N = 6,912) as discovery sample and utilized the Women's Health Initiative (WHI) African-American subsample (N = 845), WHI Hispanic subsample (N = 446), and Omaha osteoporosis study (N = 971), for replication. 27311723 2016
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE The only quality improvement strategy for which meta-analysis findings demonstrated significant improvement of osteoporosis care for patient populations including individuals without prior fracture was patient self-scheduling of DXA plus education, for increasing the outcome of BMD testing (risk difference 13%, 95% CI 7%-18%). 29637658 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE In women with osteoporosis and osteopenia homozygous AA genotype may predispose to lower BMD in the lumbar spine. 25980946 2015
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Quantitative trait loci for BMD identified by autosome-wide linkage scan to chromosomes 7q and 21q in men from the Amish Family Osteoporosis Study. 16939402 2006
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE A number of studies investigated the distribution of BMD values and the prevalence of osteoporosis in China, but their findings varied. 31067339 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Polymorphisms of the TNSALP gene have not previously been studied as a possible determinant for variations in BMD or as a predisposing genetic factor for osteoporosis. 15824850 2005
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE This study included 128 patients with osteoporosis (BMD T-score -3.2±1.9; range, -5.4 to -2.5) who underwent spinal decompression and instrumentation with a polymethylmethacrylate-augmented bone cement-injectable cannulated pedicle screw. 31188908 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Faecal microbiota profiles were determined from 181 individuals with osteopenia (n = 61) or osteoporosis (n = 60), and an age- and gender-matched group with normal BMD (n = 60). 31378815 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Utilizing 2005-2008 data of the National Health and Nutrition Examination Survey (NHANES), we identified participants with osteoporosis with any one of the following: (1) femoral neck or lumbar spine T-score ≤ -2.5; (2) low trauma hip fracture irrespective of BMD or clinical vertebral, proximal humerus, pelvis, or distal forearm fracture with a T-score >-2.5 <-1.0; or (3) FRAX score at the National Osteoporosis Foundation intervention thresholds (≥3% for hip fracture or ≥20% for major osteoporotic fracture). 27966104 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE This study examined trends in the prevalence of osteoporosis and low bone mass since 2005 using BMD data from NHANES. 28315954 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE As he continued to run over the following 2 years, his mileage threshold to fracture steadily and rapidly decreased until he was diagnosed with severe osteoporosis (lumbar spine BMD Z-score of -3.2). 30972028 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Are effects of MTHFR (C677T) genotype on BMD confined to women with low folate and riboflavin intake? Analysis of food records from the Danish osteoporosis prevention study. 15777680 2005
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE The DG presented a higher frequency of abnormal BMD (osteopenia in 45 (53%), and osteoporosis in 14 (19%)) and comorbidities than the CG (p < 0.005). 29632617 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Since obesity and osteoporosis present a high genetic predisposition and polymorphisms of IL-6, IL6R, LRP5, ESR1 and SP7 may influence the risk of both diseases, the aim of this study was to analyze the possible association of polymorphisms in these genes, as well as their haplotypes, with BMD variations in postmenopausal Mexican-Mestizo women with grade 2 or grade 3 obesity. 23891823 2013
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE The Lys-allele is associated with lower BMD and an increased risk for osteoporosis. 15782282 2005
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE We collected and analyzed summary statistics provided by large, multi-center GWAS studies of FNK (femoral neck) BMD (a major risk factor for osteoporosis) (n = 53,236) and RA (n = 80,799). 28854271 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE The rate of osteoporosis (BMD T-score<-2.5 SD) in the patient with MIDD was higher than the T1DM or early-onset T2DM group. 28599824 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE However, specific genetic variants influencing BMD and contributing to the pathogenesis of osteoporosis are largely uncharacterized. 21773993 2011
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE However, teriparatide has been shown to be superior in its effects on BMD and vertebral fracture risk in glucocorticoid-treated individuals with osteoporosis and should be considered as an alternative first line option in high-risk patients. 29691807 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE BMD measurements and kidney function for risk prediction were also evaluated; women were categorized by both reduced kidney function (stages 3-5) and osteoporosis status. 31754754 2020
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 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: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Our study suggests that TT genotype and CT+TT genotype of IGF-I rs35767 were associated with risk of osteoporosis and BMD levels. 26191288 2015
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE Variation in LEPR seemed to contribute to the variation in BMD and fracture risk in Danish postmenopausal women; the heterozygous genotype was associated with increased risk of manifest osteoporosis. 17243864 2007
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 GeneticVariation disease BEFREE And the rs12218 was found to be associated with plasma TG, HDL-C, LDL-C, and BMD levels in osteoporosis patients (P<0.05). 23522429 2013
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.100 Biomarker disease BEFREE Among subjects with spine fracture, 26 % met BMD criteria for osteoporosis. 28175980 2017