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:

rs119103234

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1833736
Disease:

Osteogenesis imperfecta, Levin type

0.810

GeneticVariation

BEFREE

Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.

15124103

2004

dbSNP:

rs119103234

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1833736
Disease:

Osteogenesis imperfecta, Levin type

0.810

GeneticVariation

UNIPROT

dbSNP:

rs119103234

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1833736
Disease:

Osteogenesis imperfecta, Levin type

0.810

CausalMutation

CLINVAR

dbSNP:

rs119103234

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1833736
Disease:

Osteogenesis imperfecta, Levin type

0.810

CausalMutation

CLINVAR

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

dbSNP:

rs137854529

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

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

0.800

CausalMutation

CLINVAR

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

22402862

2012

dbSNP:

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:

rs137854529

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

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

0.800

CausalMutation

CLINVAR

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

25135358

2014

dbSNP:

rs137854529

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

CUI:	C1969785
Disease:

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

0.800

CausalMutation

CLINVAR

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

22980763

2012