Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Hereditary Transthyretin Amyloidosis in Eight Chinese Families. 26521788

2015
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087

2015
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies. 25828388

2015