Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group BEFREE Recessive mutations in anoctamin-5 (ANO5) are causative for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy (MMD3). 31350120 2019
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group BEFREE All patients in our neuromuscular unit with genetically unclassified, recessive limb girdle muscular dystrophy (LGMD2), Miyoshi-type distal myopathy (MMD) or persistent asymptomatic hyperCK-emia (PACK) were assessed for mutations in the ANO5 gene. 23670307 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group BEFREE Mutations in dysferlin and anoctamin 5 are the cause of muscular disorders, with the main presentations as limb-girdle muscular dystrophy or Miyoshi type of distal myopathy. 23721401 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group 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
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group BEFREE Recessive mutations in the ANO5 gene have been recently identified in Northern Europe as a cause of non dysferlin-linked distal myopathy and limb girdle muscular dystrophy. 22336395 2012
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group BEFREE DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. 22402862 2012
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group BEFREE We conclude that the pattern of muscle involvement seen in patients with distal myopathy with anoctamin 5 mutations (MMD3) is typical and can thus be useful during the differential diagnosis process allowing for a more targeted molecular approach. 22980764 2012
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.080 GeneticVariation group BEFREE A new distal myopathy with mutation in anoctamin 5. 20692837 2010