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 Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses. 19602727

2009
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome. 11140845

2000
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR Inherited neuropathies: an update. 24061768

2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. 9748014

1998
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants. 14968122

2004
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). 7914929

1994
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. 9771673

1998
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. 19709674

2009
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Different disease-causing mutations in transthyretin trigger the same conformational conversion. 18276611

2008
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR Transthyretin Leu 68 in a form of cardiac amyloidosis. 1786038

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Inability of mutant transthyretin V30M to cross the blood-eye barrier. 23080516

2012
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. 2891727

1988
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
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 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant? 23126592

2012
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy. 19808383

2009
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. 8721565

1996
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. 21135536

2011
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. 15249622

2004