Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.900 strong 1.000 0 0 1994 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.500 None 1.000 0 0 2002 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.500 limited 1.000 0 0 1996 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease 0.460 strong 1.000 0 0 2013 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease 0.430 None 1.000 0 0 2018 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.360 None 1.000 0 0 1994 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.200 None 1.000 0 0 1994 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype 0.120 None 1.000 0 0 2018 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.120 None 1.000 0 0 2013 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0560346
Disease: Difficulty running
Difficulty running 		phenotype 0.100 None 0 0