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: 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: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 CausalMutation CLINVAR Decreased Aerobic Capacity in ANO5-Muscular Dystrophy. 27911336 2016
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		T 0.700 CausalMutation CLINVAR Decreased Aerobic Capacity in ANO5-Muscular Dystrophy. 27911336 2016
dbSNP: rs1403946332
rs1403946332
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		G 0.700 CausalMutation CLINVAR Decreased Aerobic Capacity in ANO5-Muscular Dystrophy. 27911336 2016
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
dbSNP: rs398124626
rs398124626
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		AT 0.700 CausalMutation CLINVAR Early-onset limb-girdle muscular dystrophy-2L in a female athlete. 27862037 2017
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 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs201725369
rs201725369
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.800 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs201725369
rs201725369
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		T 0.700 CausalMutation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs878854367
rs878854367
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		A 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs281865467
rs281865467
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		0.700 GeneticVariation UNIPROT Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. 27216912 2016
dbSNP: rs749645231
rs749645231
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.700 CausalMutation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900 2015
dbSNP: rs749645231
rs749645231
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		T 0.700 CausalMutation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900 2015
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 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs137854526
rs137854526
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs201725369
rs201725369
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.800 GeneticVariation UNIPROT Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
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 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs115750596
rs115750596
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: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		T 0.700 GeneticVariation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
dbSNP: rs138144479
rs138144479
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 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015