CAV3, caveolin 3, 859

N. diseases: 163; N. variants: 56
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: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 6 0.900 None 1.000 31 6 2001 2018
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 6 0.740 limited 1.000 6 6 2006 2018
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 14 0.700 None 1.000 26 14 1998 2018
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.700 None 1.000 5 4 2000 2005
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		disease Disease or Syndrome 2 2 0.700 None 1.000 3 2 2002 2009
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.600 strong 1.000 25 6 1998 2016
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 0.600 None 1.000 1 1 2004 2004
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.550 None 1.000 5 4 2007 2013
CUI: C1832567
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 5 0.400 None 1.000 11 4 2000 2019
CUI: C0011071
Disease: Sudden death
Sudden death 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 30 3 0.400 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.350 None 1.000 5 2003 2016
CUI: C1838254
Disease: RIPPLING MUSCLE DISEASE 1
RIPPLING MUSCLE DISEASE 1 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.310 None 1.000 6 2000 2018
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.300 None 1.000 1 2009 2009
CUI: C4751434
Disease: Isolated asymptomatic elevation of creatine phosphokinase
Isolated asymptomatic elevation of creatine phosphokinase 		phenotype Nervous System Diseases Finding 1 0.300 None 1.000 1 2000 2000
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 2009 2009
CUI: C2931337
Disease: Chromosome 3, monosomy 3p25
Chromosome 3, monosomy 3p25 		disease Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 3 0.300 None 1.000 1 2010 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.300 None 1.000 1 2010 2010
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 22 17 0.300 None 1.000 1 2013 2013
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2008 2008
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.300 None 1.000 1 2008 2008
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2008 2008
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 27 32 0.300 None 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.240 None 1.000 4 2 2004 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.210 None 1.000 2 2003 2018
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.210 None 1.000 1 2004 2004