TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED ×
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: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation BEFREE Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation. 31826067 2019
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation BEFREE Transthyretin amyloidosis with a Glu89Gln mutation was diagnosed. 31517333 2019
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.840 CausalMutation CLINVAR Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. 27238058 2016
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation BEFREE Here, the authors review the clinical and histologic cutaneous findings of FAP previously described in the literature and report on 3 patients with unique genetic mutations (Thr60Ala and Gly6Ser; Trp41Leu; Glu89Gln) for which cutaneous involvement has not previously been described. 26959691 2016
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.840 CausalMutation CLINVAR Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area. 27858761 2015
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.840 CausalMutation CLINVAR THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. 24767411 2014
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.840 CausalMutation CLINVAR Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center. 24073013 2013
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 24368466 2013
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.840 CausalMutation CLINVAR Diflunisal for ATTR cardiac amyloidosis. 22747647 2013
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626 2007
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405 2007
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.840 CausalMutation CLINVAR Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study. 16530227 2006
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation BEFREE This follow-up study of ATTR patients carrying a wide range of mutations indicates that (1) cardiac involvement is a very important component of phenotypic expression; and (2) genotype is an important source of heterogeneity in myocardial involvement, with Glu89Gln being associated with a severe, heart-driven prognosis. 17062380 2006
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074 2005
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015 2004
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.840 CausalMutation CLINVAR Combined heart and liver transplantation in four adults with familial amyloidosis: experience of a single center. 15110620 2004
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615 2002
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338 2002
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644 2001
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047 1999
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117 1999
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. 10436378 1999
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. 10611950 1999
dbSNP: rs121918082
rs121918082
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412 1999