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: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 Biomarker disease BEFREE We have previously identified two exceptional golden retriever muscular dystrophy (GRMD) dogs with a milder course despite the total absence of muscle dystrophin. 25047667 2014
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 AlteredExpression disease BEFREE Eighteen females showing a mosaic pattern of dystrophin expression on muscle biopsy were recruited and classified as symptomatic (7) or asymptomatic (11), based on the presence or absence of muscle weakness. 22894145 2012
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 Biomarker disease BEFREE Mutations in the DMD gene lead to the absence of muscle dystrophin and a progressive degeneration of skeletal muscle. 23168016 2012
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
0.040 Biomarker disease BEFREE Duchenne muscular dystrophy (DMD), the most common lethal muscle wasting disease, is a result of an absence of muscle dystrophin. 17428346 2007