DYSF, dysferlin, 8291

N. diseases: 144; N. variants: 191
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 CausalMutation disease CLINVAR
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease HPO
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease CLINVAR
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. 10825360 2000
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 21522182 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Muscular dystrophy in dysferlin-deficient mouse models. 23473732 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Dysferlin and muscular dystrophy. 11098285 2000
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited, forms of muscular dystrophy designated Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B), respectively. 11532985 2001
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Dysferlin and the plasma membrane repair in muscular dystrophy. 15066638 2004
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Dysferlin-deficient muscular dystrophy features amyloidosis. 18306167 2008
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Dysferlin is a component of that system and absence of dysferlin causes muscular dystrophy (dysferlinopathy) characterized by adult onset muscle weakness, high serum creatine kinase levels and a prominent inflammatory infiltrate. 19286669 2009
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Dysferlin is mutated in a group of muscular dystrophies commonly referred to as dysferlinopathies. 23558685 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 28104817 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Dysferlin is a large transmembrane protein that plays a key role in cell membrane repair and underlies a recessive form of inherited muscular dystrophy. 28904177 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 AlteredExpression disease LHGDN A proteomics screen of human placental microvillous syncytiotrophoblasts (STBs) revealed the expression of dysferlin (DYSF), a plasma membrane repair protein associated with certain muscular dystrophies. 17554076 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. 25176504 2014
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease LHGDN Cytoplasmic localization of dysferlin correlates with fiber regeneration in a subset of muscular dystrophy patients. 17897828 2008
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease MGD Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. 10508505 1999
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 AlteredExpression disease BEFREE Dysferlin mutations cause inherited muscular dystrophy, and dysferlin also shows abnormal plasma membrane expression in other forms of muscular dystrophy. 20595382 2010
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy. 20618995 2010
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Furthermore, genetic disruption of the central component (C3) of the complement system ameliorated muscle pathology in dysferlin-deficient mice but had no significant beneficial effect in a genetically distinct model of muscular dystrophy, mdx mice. 21060153 2010
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease MGD Furthermore, genetic disruption of the central component (C3) of the complement system ameliorated muscle pathology in dysferlin-deficient mice but had no significant beneficial effect in a genetically distinct model of muscular dystrophy, mdx mice. 21060153 2010
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease MGD Here we show that dysferlin-null mice maintain a functional dystrophin-glycoprotein complex but nevertheless develop a progressive muscular dystrophy. 12736685 2003
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE In summary, the restoration of dysferlin in skeletal muscle fibers is sufficient to rescue the MD in Dysf-deficient mice, although its mild overexpression does not appear to functionally enhance membrane repair in other models of MD. 19834057 2009
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE In the absence of dysferlin, skeletal muscle cells fail to reseal properly after injury, resulting in slow progress of the dysferlinopathy muscular dystrophy (MD). 29771357 2018