ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Osteogenesis imperfecta, Levin type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854527
rs137854527
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		G 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: rs137854527
rs137854527
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		G 0.700 CausalMutation CLINVAR Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. 23670307 2013
dbSNP: rs137854527
rs137854527
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		G 0.700 CausalMutation CLINVAR Muscle MRI findings in limb girdle muscular dystrophy type 2L. 22980763 2012
dbSNP: rs137854527
rs137854527
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		G 0.700 CausalMutation CLINVAR A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. 21186264 2011