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 Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. 19781421 2009
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. 8038017 1993
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
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. 21992998 2012
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. 16194874 2005
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutation. 22209138 2012
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). 3760189 1986
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. 14986482 2003
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 Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. 20697105 2010
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. 24650283 2014
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Combined heart and liver transplantation in four adults with familial amyloidosis: experience of a single center. 15110620 2004
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met. 14695346 2004
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis? 12779320 2003
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. 24053266 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Diagnosis of familial amyloidotic polyneuropathy in France. 1981182 1990
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). 17698792 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Different disease-causing mutations in transthyretin trigger the same conformational conversion. 18276611 2008
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 Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study. 16530227 2006
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Diflunisal for ATTR cardiac amyloidosis. 22747647 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. 2613237 1989
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis. 22412233 2012
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357 2013