ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Miyoshi Muscular Dystrophy 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 		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: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		T 0.800 CausalMutation CLINVAR