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: C0233480
Disease: Hyperirritability
Hyperirritability 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 1 0.010 None 1.000 1 2001 2001
CUI: C4749335
Disease: Rippling muscle disease with myasthenia gravis
Rippling muscle disease with myasthenia gravis 		disease Neoplasms; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
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: C1853701
Disease: Muscle hyperirritability
Muscle hyperirritability 		phenotype Finding 1 0.100 None 0
CUI: C4016724
Disease: RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE 		disease Finding 1 1 0.100 None 0 1
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: 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: 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: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2007 2007
CUI: C4724975
Disease: HyperCKmia
HyperCKmia 		disease Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C3279093
Disease: LONG QT SYNDROME 2/9, DIGENIC
LONG QT SYNDROME 2/9, DIGENIC 		disease Disease or Syndrome 2 2 0.100 None 0 1
CUI: C3805450
Disease: Calf muscle hypoplasia
Calf muscle hypoplasia 		phenotype Finding 2 0.100 None 0
CUI: C4022653
Disease: Abnormal muscle fiber protein expression
Abnormal muscle fiber protein expression 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4280804
Disease: Percussion-induced rapid rolling muscle contractions
Percussion-induced rapid rolling muscle contractions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 0.100 None 0
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: C1853702
Disease: Muscle mounding
Muscle mounding 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.100 None 0
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: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness 		phenotype Finding 4 1 0.100 None 0
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: 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: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome 		disease Disease or Syndrome 6 0.010 None 1.000 1 1999 1999
CUI: C0410198
Disease: Proximal myopathy
Proximal myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 4 0.010 None 1.000 1 1 2012 2012
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 8 1 0.100 None 0
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: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		phenotype Finding 9 0.100 None 0