Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE (99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. 23400849

2013

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family. 11791619

2001

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation. 14578606

2003

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant. 2237288

1990

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Transthyretin amyloidosis associated with variant V122I (ATTR V122I) is likely to be an important cause of heart failure in Afro-Caribbean populations, but the high prevalence of left ventricular hypertrophy (LVH) and lack of awareness of this genetic disorder pose diagnostic hurdles. 22795285

2012

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and disease-related reasons including: fragmented knowledge among different specialties and subspecialties, shortage of centres and specialists dedicated to disease management, erroneous belief it is an incurable disease, rarity of the condition, intrinsic phenotypic heterogeneity, genotypic heterogeneity in transthyretin-related forms and the necessity of target organ tissue histological diagnosis in the vast majority of cases. 25758359

2015

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease that results from the deposition of misfolded transthyretin (TTR) protein from the plasma into tissues as amyloid fibrils, leading to polyneuropathy and cardiomyopathy. 27355239

2016

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation. 28395866

2017

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. 30604309

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. 30683924

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Transthyretin amyloidosis (ATTR amyloidosis) is a heterogeneous disorder with cardiac, neurologic, and mixed phenotypes. 30938420

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 AlteredExpression BEFREE Transthyretin amyloidosis (ATTR amyloidosis) is a fatal systemic disease caused by amyloid deposits of misfolded transthyretin, leading to familial amyloid polyneuropathy and/or cardiomyopathy, or a rare oculoleptomeningeal amyloidosis. 31001136

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Transthyretin amyloidosis with polyneuropathy (ATTR-PN), a rare and progressive hereditary disorder, results from mutations in the gene coding for the transthyretin (TTR) protein that destabilize the protein's tetrameric structure. 31098895

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Cardiac amyloidosis is a rare disease characterized by amyloid heart deposits and is usually a part of systemic amyloidosis, in relation to systemic light chain (AL) and transthyretin (ATTR wild-type or genetic) amyloidosis. 31140154

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Cardiac amyloidosis or amyloid cardiomyopathy (ACM), commonly resulting from extracellular deposition of amyloid fibrils consisted of misfolded immunoglobulin light chain (AL) or transthyretin (TTR) protein, is an underestimated cause of heart failure and cardiac arrhythmias. 31375251

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Transthyretin amyloidosis (ATTR) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene. 31517333

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin analysis should be considered for older African Americans with amyloid heart disease of transthyretin type. 17251346

2007

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE Transthyretin Leu 68 in a form of cardiac amyloidosis. 1786038

1992

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive and hypertrophic heart disease and often goes undiagnosed. 27188913

2016

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin-derived amyloidosis accounts for 18% of all cases of cardiac amyloidosis. 28840452

2017

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin is a proamyloidotic protein that produces one of the most frequent forms of cardiac amyloidosis, either through mutations or a wild-type form (previously known as senile amyloidosis). 28870641

2017

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin (TTR) is a major amyloidogenic protein associated with hereditary (ATTRm) and nonhereditary (ATTRwt) intractable systemic transthyretin amyloidosis. 31167790

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 Biomarker BEFREE Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review. 31171094

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE A case of late onset cardiac amyloidosis with a new transthyretin variant (lysine 92). 11230714

2001

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis
0.400 GeneticVariation BEFREE A definitive diagnosis of ATTR depends on the detection and identification of TTR variants. 11866053

2002