×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.
29941560
2018
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
29455155
2018
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
28635949
2017
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
28635949
2017
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.
27859927
2017
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.
26656838
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
26537620
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells.
27584576
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Endomyocardial biopsy in patients with cardiomyopathy of unknown origin: does specialized center experience apply to a tertiary care hospital?
27724962
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
26537620
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience.
26428663
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.
27238058
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
25644864
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Hereditary ATTR amyloidosis: a single-institution experience with 266 patients.
26017327
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
The amyloidogenic V122I transthyretin variant in elderly black Americans.
25551524
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy.
25819286
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study.
25997029
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area.
27858761
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study.
26208957
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant.
25846356
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography.
25526974
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans.
26123279
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study.
26208957
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.
26369527
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis.
25743445
2015