Gene: TTR ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds. 27859927 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells. 27584576 2016
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. 27238058 2016
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. 26017327 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR The amyloidogenic V122I transthyretin variant in elderly black Americans. 25551524 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. 25819286 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. 26208957 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant. 25846356 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography. 25526974 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. 26123279 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study. 26208957 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. 26369527 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease 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