Source: CLINVAR

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 CausalMutation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). 2840822

1988
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. 9196903

1997
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR 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 CausalMutation CLINVAR A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. 7643356

1995
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR A Swedish family with the rare Phe33Leu transthyretin mutation. 16194875

2005
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant? 23126592

2012
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). 7914929

1994
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. 1335038

1992
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants. 15185492

2004
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses. 19602727

2009
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR An Afro-Caribbean patient with a thick heart. 24633258

2014
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 GeneticVariation CLINVAR Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. 14640031

2003
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		1.000 CausalMutation CLINVAR Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. 3722385

1986