CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
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: C4275181
Disease: Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb girdle muscular dystrophy type 2A 		disease Disease or Syndrome 1 0.030 None 1.000 3 2007 2015
CUI: C4022625
Disease: Absent muscle fiber calpain-3
Absent muscle fiber calpain-3 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4023066
Disease: Pectoralis amyotrophy
Pectoralis amyotrophy 		disease Disease or Syndrome 1 0.100 None 0
CUI: C4082951
Disease: Progressive spinal muscular atrophy
Progressive spinal muscular atrophy 		disease Nervous System Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4748295
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 		disease Disease or Syndrome 1 8 0.100 None 0 8
CUI: C4755301
Disease: Idiopathic eosinophilic myositis
Idiopathic eosinophilic myositis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2006 2007
CUI: C4724975
Disease: HyperCKmia
HyperCKmia 		disease Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C4021528
Disease: Pelvic girdle amyotrophy
Pelvic girdle amyotrophy 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1299884
Disease: Eosinophilic myositis (disorder)
Eosinophilic myositis (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.620 None 1.000 5 1 2000 2010
CUI: C3888204
Disease: ACTN3 DEFICIENCY
ACTN3 DEFICIENCY 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 1997 1997
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy 		phenotype Finding 4 2 0.100 None 0
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 14 0.010 None 1.000 1 2012 2012
CUI: C1393871
Disease: Congenital finger flexion contractures
Congenital finger flexion contractures 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		disease Musculoskeletal Diseases Acquired Abnormality 6 2 0.100 None 0
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease Disease or Syndrome 7 19 0.010 None 1.000 1 2000 2000
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 0.010 None 1.000 1 2000 2000
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 58 0.020 None 1.000 2 1999 2005
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 9 0.100 None 0
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		disease Congenital Abnormality 12 2 0.010 None 1.000 1 1 2003 2003
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		phenotype Finding 12 3 0.100 None 0 2
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		phenotype Finding 13 0.100 None 0
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 14 24 0.010 None 1.000 1 1999 1999
CUI: C2931673
Disease: Ceroid lipofuscinosis, neuronal 1, infantile
Ceroid lipofuscinosis, neuronal 1, infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2012 2012
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 0 2
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease Acquired Abnormality 15 4 0.100 None 0