TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Amyloidosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE We recruited 78 patients with hATTR amyloidosis associated with Glu89Gln mutation. 31826067 2019
dbSNP: rs387906523
rs387906523
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE In addition, we compared the cytotoxicity of ATTR G47R, the amyloidosis-causing mutation in the case studied (n = 1), and Aβ in brains from patients with cerebral amyloid angiopathy (n = 6). 28960480 2018
dbSNP: rs933476040
rs933476040
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome. 26828956 2016
dbSNP: rs1294297409
rs1294297409
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis. 25644864 2015
dbSNP: rs62093482
rs62093482
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE The study disclosed a SNP in the V30M TTR 3' UTR of the Swedish ATTR population that was not present in either the French or the Japanese populations (rs62093482-C>T). 23185504 2012
dbSNP: rs121918095
rs121918095
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE As a consequence of this stabilization mechanism, R104H may be capable of protecting patients with modestly destabilizing mutations against amyloidosis by slightly lowering the overall population of monomeric protein that can misfold and form amyloid. 16911959 2006
dbSNP: rs121918097
rs121918097
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE Fatal cerebral haemorrhage after liver transplantation in a patient with transthyretin variant (gly53glu) amyloidosis. 17122946 2006
dbSNP: rs121918075
rs121918075
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE To clarify the pathogenesis of leptomeningeal amyloidosis in familial amyloidotic polyneuropathy amyloidogenic transthyretin Y114C (FAP ATTR Y114C). 16217058 2005
dbSNP: rs121918088
rs121918088
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation 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
dbSNP: rs104894665
rs104894665
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser). 10488818 1999
dbSNP: rs11541796
rs11541796
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. 7923855 1994
dbSNP: rs121918074
rs121918074
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. 7923855 1994
dbSNP: rs267607161
rs267607161
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis. 29939164 2018
dbSNP: rs121918068
rs121918068
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported. 28412068 2017
dbSNP: rs267607161
rs267607161
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE This study broadens the recognition of the initial signs and symptoms, including cardiographic findings and longitudinal manifestations in Taiwanese individuals with ATTR Ala97Ser mutation. 28882124 2017
dbSNP: rs121918100
rs121918100
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. 26156087 2015
dbSNP: rs79977247
rs79977247
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case. 24613567 2014
dbSNP: rs121918079
rs121918079
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE We also demonstrated that clusterin is an effective inhibitor of L55P TTR amyloidosis, the most aggressive form of TTR diseases. 19664600 2009
dbSNP: rs121918068
rs121918068
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far. 17484624 2007
dbSNP: rs121918079
rs121918079
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy. 17701470 2007
dbSNP: rs79977247
rs79977247
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation 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
dbSNP: rs121918100
rs121918100
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.020 GeneticVariation BEFREE Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. 12771253 2003
dbSNP: rs121918098
rs121918098
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.030 GeneticVariation BEFREE The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis. 30470998 2019
dbSNP: rs121918077
rs121918077
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.030 GeneticVariation BEFREE Failure of Tafamidis to Halt Progression of Ala36Pro TTR Oculomeningovascular Amyloidosis. 29779881 2018
dbSNP: rs121918094
rs121918094
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.030 GeneticVariation BEFREE Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient. 25488473 2015