ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865480
rs281865480
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		CA 0.700 CausalMutation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs281865480
rs281865480
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		CA 0.700 CausalMutation CLINVAR ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 23606453 2013
dbSNP: rs281865480
rs281865480
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		CA 0.700 CausalMutation CLINVAR Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 22402862 2012
dbSNP: rs281865480
rs281865480
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		CA 0.700 CausalMutation CLINVAR Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. 22742934 2012
dbSNP: rs281865480
rs281865480
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		CA 0.700 CausalMutation CLINVAR Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. 22194990 2011
dbSNP: rs281865480
rs281865480
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		CA 0.700 CausalMutation CLINVAR A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. 21186264 2011