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: rs11026407
rs11026407
Entrez Id: 203859;102723370
Gene Symbol: ANO5;LOC102723370
ANO5;LOC102723370
CUI: C0696098
Disease:
Blood thyroid stimulating hormone analysis 		C 0.700 GeneticVariation GWASDB A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans. 24722205 2014
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: rs324175
rs324175
Entrez Id: 203859;102723370;105376587
Gene Symbol: ANO5;LOC102723370;LOC105376587
ANO5;LOC102723370;LOC105376587
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASDB Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. 18179892 2008
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0410264
Disease:
Contracture of tendo achilles 		CA 0.700 CausalMutation CLINVAR
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: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs375014127
rs375014127
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		T 0.700 CausalMutation CLINVAR
dbSNP: rs776474397
rs776474397
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886044915
rs886044915
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs375014127
rs375014127
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0427065
Disease:
Distal muscle weakness 		T 0.700 CausalMutation CLINVAR
dbSNP: rs375014127
rs375014127
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C4021082
Disease:
Fatty replacement of skeletal muscle 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR ANO5-muscular dystrophy: clinical, pathological and molecular findings. 23663589 2013
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 22402862 2012
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation 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: 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: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 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: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation CLINVAR Dilated cardiomyopathy in patients with mutations in anoctamin 5. 23041008 2013
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0016751
Disease:
Hereditary fructose intolerance syndrome 		T 0.700 CausalMutation 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: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C4024921
Disease:
Lower limb amyotrophy 		CA 0.700 CausalMutation CLINVAR
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: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		T 0.800 CausalMutation CLINVAR
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: rs1168346560
rs1168346560
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		T 0.700 CausalMutation CLINVAR