Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 1351039

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. 1362222

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. 1436517

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum. 1517749

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. 1520326

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. 1520336

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. 1544214

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. 1656975

1991
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. 1734866

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. 1932142

1991
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936

1991
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy. 3022108

1986
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin. 3135807

1988
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. 3722385

1986
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. 3818577

1986
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. 6487335

1984
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. 6583672

1984
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). 6651852

1983
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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