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 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 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 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 Biomarker disease BEFREE Lack of dysferlin at this critical time may contribute to the pattern of muscle involvement that develops later, with the onset of a muscular dystrophy primarily affecting proximal or distal muscles. 10196375 1999
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 Biomarker disease BEFREE Dysferlin and muscular dystrophy. 11098285 2000
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 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 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 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 AlteredExpression disease BEFREE Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. 14512171 2003
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 AlteredExpression disease LHGDN Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. 14512171 2003
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 BEFREE Dysferlin and the plasma membrane repair in muscular dystrophy. 15066638 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 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 Biomarker disease LHGDN Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 16100712 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 16100712 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi. 16302276 2006
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 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 GeneticVariation disease BEFREE Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy. 16608842 2006