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: 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: C4022625
Disease: Absent muscle fiber calpain-3
Absent muscle fiber calpain-3
phenotype Finding 1 2 0.100 None 0 2
CUI: C3888204
Disease: ACTN3 DEFICIENCY
ACTN3 DEFICIENCY
disease Disease or Syndrome 4 1 0.010 None 1.000 1 1997 1997
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 1 2019 2019
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
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 1998 1998
Autosomal recessive limb girdle muscular dystrophy type 2A
disease Disease or Syndrome 1 0.030 None 1.000 3 2007 2015
CUI: C0004604
Disease: Back Pain
Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.100 None 0
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 86 34 0.020 None 1.000 2 2012 2012
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 108 0.010 None 1.000 1 2012 2012
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
phenotype Finding 46 5 0.100 None 0 1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 68 20 0.020 None 1.000 2 2011 2015
CUI: C0011876
Disease: Cataract due to diabetes mellitus
Cataract due to diabetes mellitus
disease Eye Diseases Disease or Syndrome 22 0.010 None 1.000 1 2006 2006
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: C0233844
Disease: Clumsiness
Clumsiness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 48 3 0.100 None 0
Congenital finger flexion contractures
disease Congenital Abnormality 5 1 0.100 None 0
Congenital muscular dystrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.110 None 1.000 1 1 2011 2011
CUI: C0009917
Disease: Contracture
Contracture
disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.020 None 1.000 2 2005 2015
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s)
disease Musculoskeletal Diseases Acquired Abnormality 6 2 0.100 None 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0 2
Contractures of the joints of the lower limbs
phenotype Finding 12 3 0.100 None 0 2
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2017 2017
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
disease Disease or Syndrome 45 3 0.020 None 1.000 2 2011 2015
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 45 9 0.020 None 1.000 2 2011 2015