TCAP, titin-cap, 8557

N. diseases: 6; N. variants: 11
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: C1866008
Disease: Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 5 0.800 None 1.000 0 5 2010 2017
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		disease Disease or Syndrome 1 5 0.600 None 1.000 0 5 2004 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 37 63 0.120 None 1.000 0 1 2014 2017
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 43 443 0.110 None 1.000 1 1 2000 2004
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 23 42 0.100 None 0 1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 24 332 0.100 None 0 3