Source: CLINVAR

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: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
disease 1.000 strong 1.000 1 17 2001 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
disease 0.900 None 1.000 37 306 2002 2019
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 19 232 1994 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
disease 0.800 strong 1.000 38 230 2002 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
Hereditary Myopathy with Early Respiratory Failure
disease 0.800 strong 0.955 4 15 2005 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
Myopathy, Early-Onset, with Fatal Cardiomyopathy
disease 0.710 None 1.000 1 11 2007 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
disease 0.700 strong 1.000 1 7 1999 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease 0.640 None 1.000 0 12 2002 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.500 None 1.000 0 29 2005 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 8 2002 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.500 strong 1.000 0 3 2005 2019
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 3 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 1 1994 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group 0.120 None 1.000 1 1 2012 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease 0.110 None 1.000 2 2 2012 2015
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
disease 0.110 None 1.000 0 2 2018 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease 0.110 None 1.000 0 1 2017 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group 0.110 None 1.000 0 1 2011 2011
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
Left ventricular noncompaction cardiomyopathy
disease 0.110 None 1.000 0 5 2019 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
Congenital muscular dystrophy (disorder)
disease 0.110 None 1.000 0 1 2017 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 14 2 1991 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 14 3 1991 2014
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 3
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
phenotype 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 None 0 1