TTN, titin, 7273

N. diseases: 78; N. variants: 577
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: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 17 1.000 strong 1.000 1 17 2001 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		disease Cardiovascular Diseases Disease or Syndrome 2 306 0.900 None 1.000 37 306 2002 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 43 443 0.900 strong 1.000 19 232 1994 2019
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 230 0.800 strong 1.000 38 230 2002 2018
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 2 15 0.800 strong 0.955 4 15 2005 2019
CUI: C2673677
Disease: Myopathy, Early-Onset, with Fatal Cardiomyopathy
Myopathy, Early-Onset, with Fatal Cardiomyopathy 		disease Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 11 0.710 None 1.000 1 11 2007 2018
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 7 0.700 strong 1.000 1 7 1999 2018
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 10 32 0.640 None 1.000 0 12 2002 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 45 172 0.500 None 1.000 0 29 2005 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 37 63 0.500 None 1.000 0 8 2002 2019
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 7 7 0.500 strong 1.000 0 3 2005 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 48 0.360 None 1.000 0 3 1994 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 8 9 0.200 None 1.000 0 1 1994 2020
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 11 38 0.120 None 1.000 1 1 2012 2017
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 12 0.110 None 1.000 2 2 2012 2015
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 4 5 0.110 None 1.000 0 2 2018 2018
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 3 0.110 None 1.000 0 1 2017 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 37 43 0.110 None 1.000 0 1 2011 2011
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 14 0.110 None 1.000 0 5 2019 2019
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 12 14 0.110 None 1.000 0 1 2017 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 14 2 1991 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 14 3 1991 2014
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 39 59 0.100 None 0 3
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype Finding 3 2 0.100 None 0 1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 26 29 0.100 None 0 1