PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
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: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.010 None 1.000 1 1993 1993
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.180 None 0.917 12 1 2003 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.040 None 1.000 4 2005 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.200 None 1.000 1 2013 2013
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.200 None 1.000 29 4 1996 2019
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.010 None < 0.001 1 2007 2007
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.100 None 0 1
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2007 2007
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.100 None 0
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.010 None 1.000 1 2018 2018
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.010 None 1.000 1 2007 2007
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.010 None 1.000 1 2014 2014
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.010 None < 0.001 1 2007 2007
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
group Endocrine System Diseases Disease or Syndrome 240 35 0.200 None 1.000 1 2013 2013
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.050 None 0.600 5 2003 2016
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 226 0.500 None 1.000 2 2000 2011
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.300 None 1.000 1 2018 2018
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.100 None 0
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies
disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 220 1 0.220 None 1.000 3 2010 2012
CUI: C0856742
Disease: Post MI
Post MI
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 203 4 0.010 None 1.000 1 2018 2018
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 2010 2010
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.160 None 1.000 6 1 2013 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0