Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). 6736244

1984

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. 3722385

1986

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Familial amyloid polyneuropathy. 4079954

1986

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). 3760189

1986

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. 3097057

1986

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. 3030336

1987

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 A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). 2840822

1988

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. 2613237

1989

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). 2363717

1990

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule. 2122246

1990

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Diagnosis of familial amyloidotic polyneuropathy in France. 1981182

1990

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. 2349941

1990

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. 2161654

1990

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. 1997217

1991

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936

1991

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936

1991

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 A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. 1362222

1992

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. 1301926

1992

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. 1335038

1992

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. 8038017

1993

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Transthyretin gene mutations in British and French patients with amyloid neuropathy. 8509786

1993

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 Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). 8133316

1994