ANO5, anoctamin 5, 203859

N. diseases: 5; N. variants: 61
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 49 0.920 None 1.000 5 49 2010 2017
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 28 0.800 None 1.000 4 28 2004 2019
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
Miyoshi Muscular Dystrophy 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 8 0.740 None 1.000 4 8 2010 2019
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 7 0.500 strong 1.000 1 2006 2019
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 77 6 0.300 None 0