Source: CURATED

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 Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution. 11243784

2001
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 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. 10842705

2000
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT Transthyretin amyloidosis, also known as familial amyloidotic polyneuropathy, is an autosomal dominant disorder that results from a mutation in the gene encoding plasma transthyretin (TTR). 17635579

2007
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis. 12557757

2002
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT A definitive diagnosis of ATTR depends on the detection and identification of TTR variants. 11866053

2002
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 (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. 10036587

1998
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
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 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
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 "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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy. 15478468

2004
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 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 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 Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
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
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 Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074

2005
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation UNIPROT The binding of 2,4-dinitrophenol to wild-type and amyloidogenic transthyretin. 16627944

2006