TTN, titin, 7273

N. diseases: 366; N. variants: 651
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: C0558384
Disease: Arthritis/arthrosis
Arthritis/arthrosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		disease Cardiovascular Diseases Disease or Syndrome 2 308 0.900 None 1.000 44 308 2002 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 42 230 2002 2018
CUI: C1450052
Disease: Tibial Muscular Dystrophy
Tibial Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.380 None 1.000 8 2002 2015
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 6 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 5 7 1999 2018
CUI: C0340477
Disease: Re-entrant atrioventricular tachycardia
Re-entrant atrioventricular tachycardia 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C1836118
Disease: LEFT VENTRICULAR NONCOMPACTION 2
LEFT VENTRICULAR NONCOMPACTION 2 		disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4022659
Disease: Mitochondrial depletion
Mitochondrial depletion 		phenotype Finding 2 0.100 None 0
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		phenotype Pathologic Function 2 2 0.100 None 0 2
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 3 16 0.800 strong 0.955 22 16 2005 2019
CUI: C0340429
Disease: Familial restrictive cardiomyopathy (disorder)
Familial restrictive cardiomyopathy (disorder) 		disease Cardiovascular Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 2014 2014
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 36 0.300 None 1.000 1 2002 2002
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		phenotype Finding 3 1 0.100 None 0
CUI: C1864449
Disease: Limited neck flexion
Limited neck flexion 		phenotype Finding 3 0.100 None 0
CUI: C4024201
Disease: Low-output congestive heart failure
Low-output congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 3 1 0.100 None 0 1
CUI: C4531255
Disease: Internally nucleated skeletal muscle fibers
Internally nucleated skeletal muscle fibers 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0151293
Disease: Chronic Headache
Chronic Headache 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy 		phenotype Finding 4 2 0.100 None 0 2
CUI: C0158940
Disease: Transitory tachypnea of newborn
Transitory tachypnea of newborn 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0730308
Disease: Melanoma-Associated Retinopathy
Melanoma-Associated Retinopathy 		disease Neoplasms; Eye Diseases Neoplastic Process 5 0.010 None 1.000 1 2007 2007
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		phenotype Finding 5 2 0.100 None 0 2
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		phenotype Finding 5 0.100 None 0
CUI: C0410204
Disease: Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Centronuclear, Autosomal Recessive 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 6 9 0.300 None 1.000 1 2013 2013
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 6 5 0.300 None 1.000 1 2011 2011