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: rs139618850
rs139618850
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.700 GeneticVariation UNIPROT Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs139618850
rs139618850
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.700 GeneticVariation UNIPROT Clinical and genetic features of anoctaminopathy in Saudi Arabia. 25864073 2015
dbSNP: rs139618850
rs139618850
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.700 GeneticVariation UNIPROT Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 22499103 2012
dbSNP: rs139618850
rs139618850
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.700 GeneticVariation UNIPROT Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010