DisGeNET - a database of gene-disease associations

ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137854524

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C2750076
Disease:

Miyoshi Muscular Dystrophy 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs142027093

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C2750076
Disease:

Miyoshi Muscular Dystrophy 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs1564936489

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C2750076
Disease:

Miyoshi Muscular Dystrophy 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs760137559

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C2750076
Disease:

Miyoshi Muscular Dystrophy 3

0.700

GeneticVariation

UNIPROT

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

22499103

2012

dbSNP:

rs760137559

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C2750076
Disease:

Miyoshi Muscular Dystrophy 3

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

dbSNP:

rs137854521

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1836296
Disease:

Muscle Weakness Lower Limb

0.700

CausalMutation

CLINVAR

dbSNP:

rs368970223

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C0026850
Disease:

Muscular Dystrophy

0.700

GeneticVariation

CLINVAR

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

25891276

2015

dbSNP:

rs975757101

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C0026850
Disease:

Muscular Dystrophy

0.010

GeneticVariation

BEFREE

Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping.

24239059

2014

dbSNP:

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

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

CLINVAR

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

25891276

2015

dbSNP:

rs137854523

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

CLINVAR

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

23670307

2013

dbSNP:

rs137854523

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs137854523

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

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:

rs137854523

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

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

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

UNIPROT

Clinical and genetic features of anoctaminopathy in Saudi Arabia.

25864073

2015

dbSNP:

rs137854523

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

CLINVAR

Dilated cardiomyopathy in patients with mutations in anoctamin 5.

23041008

2013

dbSNP:

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:

rs137854523

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

CLINVAR

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

22402862

2012

dbSNP:

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

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:

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:

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:

rs137854526

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

CLINVAR

dbSNP:

rs137854526

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

GeneticVariation

UNIPROT

Clinical and genetic features of anoctaminopathy in Saudi Arabia.

25864073

2015

dbSNP:

rs137854529

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)

0.800

CausalMutation

CLINVAR

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

27911336

2016