ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Source: ALL
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 24 49 2010 2017
CUI: C0555197
Disease: Florid cemento-osseous dysplasia
Florid cemento-osseous dysplasia 		disease Infections; Musculoskeletal Diseases Neoplastic Process 1 1 0.010 None 1.000 1 2019 2019
CUI: C3495361
Disease: Gigantiform Cementoma, Familial
Gigantiform Cementoma, Familial 		disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 1 1 0.010 None 1.000 1 2019 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 2 8 0.740 None 1.000 7 8 2010 2019
CUI: C0586738
Disease: Calf muscle weakness
Calf muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2013 2013
CUI: C1833739
Disease: Diaphyseal cortical sclerosis
Diaphyseal cortical sclerosis 		phenotype Finding 2 0.100 None 0
CUI: C1290708
Disease: Osteomyelitis of mandible
Osteomyelitis of mandible 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4024603
Disease: Atrophy of quadriceps femoris muscle
Atrophy of quadriceps femoris muscle 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 3 1 0.100 None 0
CUI: C4025576
Disease: EMG: myotonic runs
EMG: myotonic runs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0
CUI: C4531255
Disease: Internally nucleated skeletal muscle fibers
Internally nucleated skeletal muscle fibers 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0240679
Disease: Pelvic girdle muscle atrophy
Pelvic girdle muscle atrophy 		disease Disease or Syndrome 4 0.100 None 0
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 47 0.100 None 1.000 7 1 2010 2015
CUI: C0696098
Disease: Blood thyroid stimulating hormone analysis
Blood thyroid stimulating hormone analysis 		phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 1 2014 2014
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		disease Musculoskeletal Diseases Acquired Abnormality 6 2 0.100 None 0
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones 		phenotype Finding 6 0.100 None 0
CUI: C3281059
Disease: Broad jaw
Broad jaw 		phenotype Finding 6 0.100 None 0
CUI: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		phenotype Pathologic Function 6 4 0.100 None 0
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease Disease or Syndrome 7 19 0.030 None 1.000 3 2010 2016
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 25 0.030 None 1.000 3 2010 2016
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 9 28 0.800 None 1.000 34 28 2004 2019
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		disease Disease or Syndrome 9 0.100 None 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0883409
Disease: Cardiac troponin I measurement
Cardiac troponin I measurement 		phenotype Laboratory Procedure 11 14 0.100 None 1.000 1 1 2019 2019
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		phenotype Finding 13 0.100 None 0
CUI: C0796149
Disease: Scott Syndrome
Scott Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2011 2011