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: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 87 1 0.010 None 1.000 1 2017 2017
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.010 None 1.000 1 2018 2018
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: 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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.010 None 1.000 1 2012 2012
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 2010 2010
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.010 None 1.000 1 2020 2020
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2006 2006
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: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.010 None 1.000 1 2017 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2019 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2015 2015
CUI: C0234233
Disease: Sore to touch
Sore to touch 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 56 8 0.010 None 1.000 1 2012 2012
CUI: C3888204
Disease: ACTN3 DEFICIENCY
ACTN3 DEFICIENCY 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 1997 1997
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2012 2012
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 30 0.010 None 1.000 1 1998 1998
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.010 None 1.000 1 2006 2006
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2019 2019
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2019 2019
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease Disease or Syndrome 7 19 0.010 None 1.000 1 2000 2000
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2015 2015
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.010 None 1.000 1 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1999 1999
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