Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE The aim of the present study was to investigate if the type of amyloid fibril remains the same within ATTR Val30Met amyloidosis families. 30811423 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease LHGDN Although not described previously, elevated IOP may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene. 17980738 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Proportion between wild-type and mutant protein in truncated compared to full-length ATTR: an analysis on transplanted transthyretin T60A amyloidosis patients. 19118530 2009
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE The development of autonomic dysfunction impacts morbidity, disease progression, and mortality in patients with hereditary ATTR amyloidosis. 31473866 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE This is the second report of transthyretin (TTR) amyloidosis in a patient who had ATTR Tyr114His diagnosed by mass spectrometry and gene analysis. 11409031 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Central nervous system (CNS) complications are increasingly noted in liver transplanted (LTx) hereditary transthyretin amyloid (ATTRm) amyloidosis patients; this suggests that the increased survival allows for intracranial ATTRm formation from brain synthesized mutant TTR. 29019809 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Only one patient in our study had light chain amyloidosis and showed higher TBR than patients with transthyretin amyloid: TBR 3.0 versus TBR median 1.44, IQR 1.33-1.69. 31140154 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE In contrast, the D18G TTR mutation in individuals of Hungarian descent leads to CNS amyloidosis. 12779320 2003
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Although not described previously, elevated IOP may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene. 17980738 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR). 28539873 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE This case illustrated the clinical and pathologic phenotype of an ATTR amyloidosis patient who initially presented impaired renal function and p.Leu75Pro variant was found by sequencing the coding region of TTR gene. 28272196 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Fatal cerebral haemorrhage after liver transplantation in a patient with transthyretin variant (gly53glu) amyloidosis. 17122946 2006
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE (99m)Tc-DPD uptake was also absent (score of 0) among unaffected controls and in 2 unaffected relatives of patients with hereditary transthyretin-related amyloidosis who harbor a mutation in the TTR gene. 22464102 2012
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Predominant symptom presentation in patients with hereditary TTR amyloidosis differed according to the underlying disease-causing mutation (polyneuropathy for Val30Met, cardiomyopathy for Val122Ile and Leu111Met, and mixed for Glu89Gln). 23193944 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis. 30470998 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. 11752443 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE In the human systemic amyloidoses caused by mutant or wild-type transthyretin (TTR), deposition occurs at a distance from the site of synthesis. 22362898 2012
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. 7923855 1994
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. 26521788 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE The secretion of transthyretin (TTR) variants contributes to the pathogenesis of amyloidosis because they form aggregates in the extracellular environment. 17431395 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Amyloid and the mutant form of prealbumin characteristic of FAP 1, TTR Met 30, were shown to be present in the vitreous. 2060679 1991
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE At the same time, for one family of proteinopathies, the rare TTR amyloidoses, disease-modifying therapy has existed for almost 3 decades and two new types of disease-modifying therapy have become available more recently. 31699321 2019
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE Familial amyloidotic polyneuropathy (FAP) type I, the most common dominantly inherited form of amyloidosis, is caused by a Val-to-Met point mutation at position 30 (Val(30)-->Met) in the protein transthyretin. 10973857 2000
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE This diboronic acid inhibits fibril formation by both wild-type TTR and a common disease-related variant, V30M TTR, as effectively as does tafamidis, a small-molecule drug used to treat TTR-related amyloidosis in the clinic. 28920684 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE The demonstration, in hereditary systemic transthyretin Val30Met amyloidosis, that such differences are consistently associated with amyloid fibrils composed of different length transthyretin fragments sheds new light on this question and will open the way to further informative studies. 19061244 2009