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 GeneticVariation disease BEFREE YACs selected from our contig will be the starting point for the cloning of the LGMD2B gene and thereby establish the biological basis for this form of muscular dystrophy and its relationship with the other limb-girdle muscular dystrophies. 8617508 1996
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 AlteredExpression disease BEFREE We studied dysferlin expression in a total of 176 patients, from 166 LGMD families: 12 LGMD2B patients, 70 with other known forms of muscular dystrophies (LGMD2A, sarcoglycanopathies, LGMD2G), in an attempt to assess the effect of the primary gene-product deficiency on dysferlin. 11665864 2001
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency. 17698709 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE This approach has also been explored in several other genetic disorders, including laminin α2 chain-deficient congenital muscular dystrophy, dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy and limb-girdle muscular dystrophy type 2B), sarcoglycanopathy (limb-girdle muscular dystrophy type 2C), and Fukuyama congenital muscular dystrophy. 29067661 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE These results add to the existing evidence that cell membrane repair defect may be responsible for MM-type muscular dystrophy and indicate that a previously unsuspected genetic lesion that affects cell membrane repair pathway is responsible for the disease in the non-dysferlin MM patients. 17132147 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE These findings identify that mitochondrial deficit in muscular dystrophy compromises the repair of injured myofibers and show that this repair mechanism is distinct from and complimentary to the dysferlin-mediated repair of injured myofibers. 27834955 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE The proposed name 'dysferlin' combines the role of the gene in producing muscular dystrophy with its C. elegans homology. 9731527 1998
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE The phenotypic overlap of ANO5 myopathies with dysferlin-associated muscular dystrophies has inspired the hypothesis that ANO5, like dysferlin, may be involved in the repair of muscle membranes following injury. 26911675 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb-girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin-encoding gene (DYSF) mutations. 23663589 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Recessive loss-of-function mutations in dysferlin lead to muscular dystrophies, for which no treatment is currently available. 22736764 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Recently, it was reported that a mutation in the dysferlin gene and/or dysferlin deficiency causes proximal and distal forms of muscular dystrophy, which are known by the term dysferlinopathy. 20667157 2010
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy. 25143362 2014
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Our findings indicate that muscle membrane disruption and myofiber degeneration in dysferlinopathy were directly mediated by the loss of dysferlin via a new pathogenic mechanism in muscular dystrophies. 15254015 2004
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease MGD Our findings indicate that muscle membrane disruption and myofiber degeneration in dysferlinopathy were directly mediated by the loss of dysferlin via a new pathogenic mechanism in muscular dystrophies. 15254015 2004
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. 16705711 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE New aspects on patients affected by dysferlin deficient muscular dystrophy. 19528035 2010
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). 11468312 2001
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in the DYSF gene cause clinically distinct forms of muscular dystrophies. 31218594 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. 27349407 2016
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in the dysferlin gene are involved in two autosomal recessive muscular dystrophies: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. 24028392 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy. 16087766 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. 16023782 2006
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies. 24438169 2014
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in dysferlin cause an inherited muscular dystrophy because of defective membrane repair. 21412170 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy. 16608842 2006