JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
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: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.010 None 1.000 1 2007 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.010 None 1.000 1 2007 2007
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.010 None 1.000 1 2018 2018
CUI: C0264714
Disease: Acute heart failure
Acute heart failure 		disease Cardiovascular Diseases Disease or Syndrome 89 0.010 None 1.000 1 2019 2019
CUI: C0302314
Disease: Xanthoma
Xanthoma 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 4 0.010 None 1.000 1 1995 1995
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None 1.000 1 2011 2011
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 2018 2018
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 None 1.000 1 2017 2017
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79 0.010 None 1.000 1 2018 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2012 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2017 2017
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 7 0.010 None 1.000 1 1991 1991
CUI: C0393754
Disease: Headache associated with sexual activity
Headache associated with sexual activity 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 14 0.010 None 1.000 1 2015 2015
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 1991 1991