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: C0013336
Disease: Dwarfism
Dwarfism
0.030 Biomarker disease BEFREE The aim of this study was to evaluate TBS and BMD in women with short stature. 31302886 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.030 Biomarker disease BEFREE In DMD higher incidence of short stature (height SDS < -2.5 SD) was observed in Dp71 subgroup having mutations in dystrophin exons 63-79 than others having mutations in exons 1-62 (27.8% vs. 7.5%, p = 0.017). 28734761 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.030 GeneticVariation disease BEFREE Although there is no strict genotype-phenotype correlation, particularly mutations in the distal part of the dystrophin gene are frequently associated with short stature and a high rate of microcephaly as well as cognitive impairment. 24100172 2014