ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201725369
rs201725369
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. 23670307 2013
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 22499103 2012
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 GeneticVariation CLINVAR Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 22402862 2012
dbSNP: rs137854526
rs137854526
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 22499103 2012
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 22402862 2012
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR Muscle MRI findings in limb girdle muscular dystrophy type 2L. 22980763 2012
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		0.800 GeneticVariation UNIPROT Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 22499103 2012
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 22499103 2012
dbSNP: rs201725369
rs201725369
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 22499103 2012
dbSNP: rs201725369
rs201725369
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 22499103 2012
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. 21186264 2011
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. 21739273 2011
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 GeneticVariation CLINVAR Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
dbSNP: rs137854526
rs137854526
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		0.800 GeneticVariation UNIPROT Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
dbSNP: rs201725369
rs201725369
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137854526
rs137854526
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs7481951
rs7481951
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0883409
Disease:
Cardiac troponin I measurement 		T 0.700 GeneticVariation GWASCAT Cardiac Troponin T and Troponin I in the General Population. 31014085 2019
dbSNP: rs76854597
rs76854597
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0201973
Disease:
Creatine kinase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs398124626
rs398124626
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		AT 0.700 CausalMutation CLINVAR Early-onset limb-girdle muscular dystrophy-2L in a female athlete. 27862037 2017