|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
|
28611029 |
2017 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
|
26735901 |
2016 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
|
22526018 |
2012 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
|
24105469 |
2014 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
|
28877744 |
2017 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
|
25448463 |
2014 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
GeneticVariation |
UNIPROT |
Titin mutations as the molecular basis for dilated cardiomyopathy.
|
11846417 |
2002 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
|
17444505 |
2007 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
|
26315439 |
2015 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
|
23975875 |
2013 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
GeneticVariation |
CLINVAR |
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
|
27813223 |
2017 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Hereditary myopathy with early respiratory failure: occurrence in various populations.
|
23606733 |
2014 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
GeneticVariation |
CLINVAR |
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
|
17444505 |
2007 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
|
24119082 |
2013 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
GeneticVariation |
CLINVAR |
Prevalence of Titin Truncating Variants in General Population.
|
26701604 |
2015 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
|
23486992 |
2014 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
Biomarker |
CTD_human |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
GeneticVariation |
CLINVAR |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
|
27353043 |
2016 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
Biomarker |
GENOMICS_ENGLAND |
Truncations of titin causing dilated cardiomyopathy.
|
22335739 |
2012 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
GeneticVariation |
UNIPROT |
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
|
11788824 |
2002 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.
|
27868403 |
2017 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
Biomarker |
GENOMICS_ENGLAND |
Titin-truncating variants affect heart function in disease cohorts and the general population.
|
27869827 |
2017 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
A rising titan: TTN review and mutation update.
|
24980681 |
2014 |
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
Cardiomyopathy, Dilated, 1g
|
0.900 |
CausalMutation |
CLINVAR |
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.
|
24444549 |
2014 |