ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
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 Recessive mutations in the anoctamin-5-encoding gene (ANO5) cause muscular dystrophy of various phenotypes. 30320887 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. 29789544 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy. 28489263 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. 28214267 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease MGD 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 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 CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
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 GeneticVariation disease BEFREE So far, no case with a silent mutation leading to abnormal splicing has been identified in Anoctamin 5 muscular dystrophy. 24239059 2014
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE As ANO5 has also been found to be mutated in two different forms of muscular dystrophy, the finding of this third mutation in GDD adds clues to the role of ANO5 in these disorders. 23047743 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE This study reports the phenotype and genotype of seven unrelated patients with ANO5-muscular dystrophy. 23663589 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. 23670307 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE This finding suggests that patients with amyloid in muscle should be screened for anoctamin 5 muscular dystrophy. 21820307 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Mutations in ANO5 are a frequent cause of undetermined muscular dystrophy, with both distal and proximal presentation. 22402862 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with recessive mutations in the ANO5 gene. 22980763 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE The cases reported here should help to better understand the important role of mutation screening in the ANO5 gene in patients with adult onset muscular dystrophy and very high CK levels. 22499103 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 GeneticVariation disease BEFREE The excitement about Tmem16 proteins has been enhanced by the finding that Ano1 has been linked to cancer, mutations in Ano5 are linked to several forms of muscular dystrophy (LGMDL2 and MMD-3), mutations in Ano10 are linked to autosomal recessive spinocerebellar ataxia, and mutations in Ano6 are linked to Scott syndrome, a rare bleeding disorder. 21642943 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE We have further defined the clinical phenotype of ANO5-associated muscular dystrophy. 21186264 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease BEFREE Though the function of the ANO5 protein is still unknown, its putative calcium-activated chloride channel function may lead to important insights into the role of deficient skeletal muscle membrane repair in muscular dystrophies. 20096397 2010
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker disease HPO