Gene: TTR ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 Biomarker disease GENOMICS_ENGLAND Inotersen, a 2'-O-methyoxyethyl-modified antisense oligonucleotide, which acts by reducing the production of transthyretin, was recently demonstrated to improve disease course and quality of life in early hereditary transthyretin amyloidosis polyneuropathy in a 15-month Phase III study. 31118583 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 Biomarker disease GENOMICS_ENGLAND Inotersen: First Global Approval. 30120737 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene. 23317988 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms. 19167329 2009
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Transthyretin amyloidosis, also known as familial amyloidotic polyneuropathy, is an autosomal dominant disorder that results from a mutation in the gene encoding plasma transthyretin (TTR). 17635579 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. 17577687 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT The binding of 2,4-dinitrophenol to wild-type and amyloidogenic transthyretin. 16627944 2006
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074 2005
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT X-ray crystallographic studies of two transthyretin variants: further insights into amyloidogenesis. 15735344 2005
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy. 15478468 2004
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Identification of transthyretin variants by sequential proteomic and genomic analysis. 15217993 2004
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015 2004
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. 12771253 2003
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis. 12557757 2002
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT A definitive diagnosis of ATTR depends on the detection and identification of TTR variants. 11866053 2002
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338 2002
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615 2002
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution. 11243784 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. 10842705 2000
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. 10842718 2000
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT The SSCP pattern suggested the presence of a mutation in exon 2, but was different from the pattern observed for a control representing the most common TTR mutation associated with FAP, i.e., TTR V30M. 10882995 2000
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease UNIPROT Serum analysis using immunoprecipitation and MALDI/TOF MS system can provide useful information when investigating FAP patients with diverse types of variant TTR. 10611950 1999