ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Hereditary fructose intolerance syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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: 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