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: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease caused by the lack of dystrophin in muscle fibers that is currently without curative treatment. 31683098 2019
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 GeneticVariation disease BEFREE Duchenne muscular dystrophy is a lethal X-linked muscle wasting disease due to mutations of the dystrophin gene leading to distinct susceptibility to degeneration and fibrosis among skeletal muscles. 30953145 2019
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disease caused by a lack of dystrophin, which eventually leads to apoptosis of muscle cells and impaired muscle contractility. 29317080 2018
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 AlteredExpression disease BEFREE Indeed, the loss of dystrophin protein expression causes the muscle wasting disease, Duchenne muscular dystrophy (DMD). 30349485 2018
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 Biomarker disease BEFREE Duchenne and Becker muscular dystrophies (DMD and BMD) are muscle-wasting diseases caused by mutations in the DMD gene-encoding dystrophin. 22589245 2012
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 GeneticVariation disease BEFREE Out of three mutations in the dystrophin gene that cause Duchenne muscular dystrophy (DMD), the most common, serious childhood muscle wasting disease, two are genomic deletions of one or more exons that disrupt the reading frame. 18570328 2009
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 Biomarker disease BEFREE Duchenne muscular dystrophy is a fatal muscle wasting disease that is characterized by a deficiency in the protein dystrophin. 19359520 2009
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease that is characterized by muscle dystrophin deficiency. 16627883 2006
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 Biomarker disease BEFREE Duchenne muscular dystrophy is a muscle wasting disease that results from a dystrophin deficiency in skeletal and cardiac muscle. 11984871 2002
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome
0.100 Biomarker disease BEFREE Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease. 1362673 1992