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: rs137854528
rs137854528
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1380525804
rs1380525804
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs142027093
rs142027093
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554924356
rs1554924356
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554924356
rs1554924356
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554929292
rs1554929292
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554929301
rs1554929301
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554929301
rs1554929301
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564936489
rs1564936489
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1564936489
rs1564936489
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs188150039
rs188150039
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs375014127
rs375014127
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		T 0.700 CausalMutation 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: C0026848
Disease:
Myopathy 		T 0.700 GeneticVariation 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: rs397514736
rs397514736
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61910685
rs61910685
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs759064817
rs759064817
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs759064817
rs759064817
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs773736505
rs773736505
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs776474397
rs776474397
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0241005
Disease:
Creatine phosphokinase serum increased 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs781027702
rs781027702
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs781027702
rs781027702
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		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: rs119103234
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