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 A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation. 20686303 2010
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease 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
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). 2840822 1988
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. 9196903 1997
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. 2349941 1990
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. 1362222 1992
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. 7643356 1995
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. 1997217 1991
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR A Swedish family with the rare Phe33Leu transthyretin mutation. 16194875 2005
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant? 23126592 2012
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). 6736244 1984
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). 7914929 1994
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. 1335038 1992
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants. 15185492 2004
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses. 19602727 2009
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR An Afro-Caribbean patient with a thick heart. 24633258 2014
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis. 25644864 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: a new endemic region in northern Tuscany? 21540676 2011
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 GeneticVariation disease CLINVAR Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. 14640031 2003
Entrez Id: 7276
Gene Symbol: TTR
TTR 		1.000 CausalMutation disease CLINVAR Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. 3722385 1986