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.
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.110 None 1.000 2 1 2015 2019
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 31 7 0.110 None 1.000 1 1 2012 2012
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 17 5 0.110 None 1.000 1 1 2019 2019
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 9 163 0.100 None 1.000 51 10 1990 2017
Wolff-Parkinson-White Syndrome, CTCAE
phenotype Finding 2 2 0.100 None 1.000 20 1 2006 2017
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.100 None 1.000 12 1 2008 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 1.000 11 1 2008 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 7 1 1995 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 7 1 1995 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 7 1 1995 2013
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 2 2 2012 2019
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 2 2 2012 2019
CUI: C0011071
Disease: Sudden death
Sudden death
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 30 3 0.100 None 1.000 1 1 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 1.000 1 1 2012 2012
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
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: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0344955
Disease: Ventricular septal hypertrophy
Ventricular septal hypertrophy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 8 3 0.100 None 0
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart
group Cardiovascular Diseases Disease or Syndrome 41 11 0.100 None 0 1
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
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0