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: rs119103234
rs119103234
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type
0.810 GeneticVariation UNIPROT
dbSNP: rs119103234
rs119103234
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type
G 0.810 CausalMutation CLINVAR
dbSNP: rs119103234
rs119103234
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type
C 0.810 CausalMutation CLINVAR
dbSNP: rs137854523
rs137854523
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs137854526
rs137854526
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
C 0.800 GeneticVariation CLINVAR
dbSNP: rs137854529
rs137854529
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057518855
rs1057518855
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0026848
Disease:
Myopathy
GT 0.700 GeneticVariation CLINVAR
dbSNP: rs1064793358
rs1064793358
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type
A 0.700 CausalMutation CLINVAR
dbSNP: rs1064793358
rs1064793358
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1168346560
rs1168346560
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1168346560
rs1168346560
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type
T 0.700 CausalMutation CLINVAR
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: C0410264
Disease:
Contracture of tendo achilles
CA 0.700 CausalMutation CLINVAR
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
CA 0.700 GeneticVariation CLINVAR
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0026848
Disease:
Myopathy
CA 0.700 CausalMutation CLINVAR
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0022680
Disease:
Polycystic Kidney Diseases
CA 0.700 CausalMutation CLINVAR
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1836296
Disease:
Muscle Weakness Lower Limb
CA 0.700 CausalMutation CLINVAR
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
CA 0.700 CausalMutation CLINVAR
dbSNP: rs137854521
rs137854521
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C4024921
Disease:
Lower limb amyotrophy
CA 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: C1833736
Disease:
Osteogenesis imperfecta, Levin type
T 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
dbSNP: rs137854524
rs137854524
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C2750076
Disease:
Miyoshi Muscular Dystrophy 3
G 0.700 CausalMutation CLINVAR
dbSNP: rs137854524
rs137854524
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1969785
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs137854524
rs137854524
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type
G 0.700 CausalMutation CLINVAR