CAV3, caveolin 3, 859

N. diseases: 8; N. variants: 21
Source: CLINVAR ×
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 1 1 0.900 None 1.000 3 1 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 2 6 0.740 limited 1.000 0 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 8 0.700 None 1.000 15 8 1998 2018
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 23 42 0.700 None 1.000 0 3 2000 2005
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		disease Disease or Syndrome 2 2 0.700 None 1.000 0 2 2002 2009
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 16 245 0.190 None 0.964 19 6 2000 2019
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: C4016724
Disease: RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE 		disease Finding 1 1 0.100 None 0 1