MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
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.
Familial Hypertrophic Cardiomyopathy Type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 145 0.900 definitive 1.000 118 143 1990 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.700 strong 0.990 291 246 1986 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.700 None 1.000 24 43 2007 2020
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
LEFT VENTRICULAR NONCOMPACTION 10
disease Disease or Syndrome 1 20 0.700 strong 1.000 9 20 1997 2019
Cardiomyopathy, Hypertrophic, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.500 None 1.000 154 173 1989 2019
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction
disease Cardiovascular Diseases Disease or Syndrome 35 26 0.430 None 1.000 5 3 2009 2019
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.400 None 0.984 64 8 2000 2019
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.400 None 1.000 1 2012 2012
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 83 47 0.400 None 1.000 1 3 2010 2010
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
disease Finding 1 1 0.300 None 1.000 5 1 1999 2012
Obstructive asymmetric septal hypertrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 7 0.300 None 1.000 3 1997 2013
Idiopathic hypertrophic subaortic stenosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 7 0.300 None 1.000 3 1997 2013
CUI: C3809346
Disease: CARDIOMYOPATHY, DILATED, 1MM
CARDIOMYOPATHY, DILATED, 1MM
disease Disease or Syndrome 1 0.300 strong 1.000 2 2010 2017
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group Cardiovascular Diseases Disease or Syndrome 101 0.300 None 1.000 1 2009 2009
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.300 None 1.000 1 2010 2010
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
group Cardiovascular Diseases Disease or Syndrome 108 1 0.300 None 1.000 1 2009 2009
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 27 32 0.300 None 1.000 1 2010 2010
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 88 11 0.300 None 1.000 1 2012 2012
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.200 None 1.000 12 5 2002 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.150 None 1.000 14 6 1998 2017
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.150 None 1.000 6 4 2002 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.120 None 1.000 2 1 2007 2014
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 9 0.120 None 1.000 2 1998 2013
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.120 None 1.000 2 2010 2011
CUI: C0039070
Disease: Syncope
Syncope
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.120 None 1.000 2 2005 2017