×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses.
19602727
2009
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.
24053266
2013
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome.
11140845
2000
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).
22877808
2012
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Inherited neuropathies: an update.
24061768
2013
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy.
9748014
1998
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants.
14968122
2004
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
7914929
1994
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.
9771673
1998
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.
19709674
2009
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Different disease-causing mutations in transthyretin trigger the same conformational conversion.
18276611
2008
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Transthyretin Leu 68 in a form of cardiac amyloidosis.
1786038
1992
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
25644864
2015
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Inability of mutant transthyretin V30M to cross the blood-eye barrier.
23080516
2012
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.
2891727
1988
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
25550818
2014
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.
26656838
2016
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
22745357
2013
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
GeneticVariation
CLINVAR
A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant?
23126592
2012
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.
24480837
2014
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.
19808383
2009
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
8721565
1996
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.
21135536
2011
×
Entrez Id:
7276
Gene Symbol:
TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000
CausalMutation
CLINVAR
Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.
15249622
2004