TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		C 0.900 CausalMutation CLINVAR
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.900 CausalMutation CLINVAR Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). 6736244 1984
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. 3818577 1986
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. 2891727 1988
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 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
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831 1992
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 1351039 1992
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation BEFREE The level of the variant TTR (methionine instead of valine at position 30) in his serum was much higher than that usually found in type I FAP patients. 1490495 1992
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560 1994
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation BEFREE In addition, we have characterized the Thr-119-Met TTR variant, which is a common nonpathogenic variant in the Portuguese population, to further investigate the role that this mutation plays in protecting individuals who also carry the Val-30-Met mutation against the classically severe FAP pathology. 7577941 1995
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982 1995
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351 1997
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation BEFREE This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP. 9843084 1998
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412 1999
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047 1999
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation BEFREE A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met. 10611950 1999
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 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
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation BEFREE The method was successfully tested using serum from ATTR patients with known variants (Val30-->Met and Val122-->Ile). 9949732 1999
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met. 10611950 1999
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation BEFREE The most common amyloidogenic TTR variant is V30M-TTR, and L55P-TTR is the variant associated with the most aggressive form of FAP. 10551861 1999
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117 1999
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.900 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
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		A 0.900 CausalMutation CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707 2001
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644 2001
dbSNP: rs28933979
rs28933979
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C2751492
Disease:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 GeneticVariation BEFREE It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type. 11940682 2002