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 Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. 7656439

1995

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 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 VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. 8081397

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

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 GeneticVariation CLINVAR Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) 8579098

1996

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) 8579098

1996

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 GeneticVariation 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 Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) 8960746

1996

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. 9017939

1997

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy. 9191784

1997

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. 9196903

1997

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. 9547003

1998

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 A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. 9748569

1998

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 Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation. 9818054

1998

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR Serum analysis using immunoprecipitation and MALDI/TOF MS system can provide useful information when investigating FAP patients with diverse types of variant TTR. 10611950

1999

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 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 Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707

2001

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707

2001

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 CausalMutation CLINVAR A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings. 11709003

2001