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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.700 strong 0.990 291 246 1986 2020
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
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: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
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: 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
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
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
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.400 None 0.984 64 8 2000 2019
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: 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: 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: 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
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
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 2 2 2012 2019
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 2 2 2012 2019
CUI: C1963282
Disease: Wolff-Parkinson-White Syndrome, CTCAE
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: 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 0.080 None 0.875 8 1 1977 2005
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: C2751427
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO 		disease Finding 1 1 0.300 None 1.000 5 1 1999 2012
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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.110 None 1.000 2 1 2015 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018