Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
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

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

2015

Entrez Id: 7276
Gene Symbol: TTR
TTR
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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Hereditary Transthyretin Amyloidosis in Eight Chinese Families. 26521788

2015

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

2015

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation. 25550818

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation. 24480837

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. 25044787

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR An Afro-Caribbean patient with a thick heart. 24633258

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis. 24474780

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. 24455802

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. 24184229

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. 24650283

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs. 24601850

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. 24767411

2014

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. 24053266

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Inherited neuropathies: an update. 24061768

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center. 24073013

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. 22592564

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Diflunisal for ATTR cardiac amyloidosis. 22747647

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). 22877808

2012