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 GeneticVariation UNIPROT The SSCP pattern suggested the presence of a mutation in exon 2, but was different from the pattern observed for a control representing the most common TTR mutation associated with FAP, i.e., TTR V30M. 10882995

2000

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT 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 UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047

1999

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117

1999

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 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

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412

1999

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. 10036587

1998

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. Online. 10694917

1998

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils. 9733771

1998

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online. 10627135

1998

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. 9605286

1998

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis. 8990019

1997

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351

1997

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982

1995

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT We propose an approach to molecular diagnosis in European patients with FAP, apart from members of families with known mutations, based on the frequency of TTR mutations observed in this and and other studies of FAP in Europe. 7655883

1995

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560

1994

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. 7923855

1994

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT 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 UNIPROT This is the first FAP family of Taiwanese origin demonstrating a causative gene abnormality, and FAP with TTR-Pro55 was considered to be more serious compared with other forms of FAP. 7910950

1994

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. 8095302

1993

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT Structure of Met30 variant of transthyretin and its amyloidogenic implications. 8382610

1993

Entrez Id: 7276
Gene Symbol: TTR
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
1.000 GeneticVariation UNIPROT A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. 8352764

1993