Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		disease 0.920 None 1.000 21 35 2010 2017
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		disease 0.800 None 1.000 21 27 2004 2019
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
Miyoshi Muscular Dystrophy 3 		disease 0.740 None 1.000 0 7 2010 2019
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 0.944 1 1 2010 2019
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.200 None 1.000 0 3 2012 2019
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		disease 0.100 None 1.000 7 1 2010 2015
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		phenotype 0.100 None 0 1
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype 0.100 None 0 1
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease 0.100 None 0 1
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 4
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group 0.100 None 0 1
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype 0.100 None 0 1