Gene: TTR ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR 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 		1.000 CausalMutation disease CLINVAR Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. 9017939 1997
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. 21692911 2011
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. 24455802 2014
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936 1991
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. 2046936 1991
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. 22592564 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. 21135536 2011
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset. 23279339 2012
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area. 27858761 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. 8081397 1994
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. 12039669 2002
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. 25819286 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. 9771673 1998
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy. 12000195 2002
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. 16448460 2006
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. 9547003 1998
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Transthyretin Leu 68 in a form of cardiac amyloidosis. 1786038 1992
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin gene mutations in British and French patients with amyloid neuropathy. 8509786 1993
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression. 18022643 2008