rs121918079, TTR

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.010 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
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review. 31319424 2019
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE Our study offers new insights on the negative impact of S-homocysteinylation on L55P-TTR stability, whose aggregation is considered the causative agent of a form of early-onset familial amyloid polyneuropathy and cardiomyopathy. 31676294 2020
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE The presence of extracellular deposits of amyloid aggregates of WT or L55P TTR, respectively, is a key hallmark of two pathological conditions, known as senile systemic amyloidosis and familial amyloid polyneuropathy. 30131519 2018
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro). 7910950 1994
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy. 17701470 2007
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE We also demonstrated that clusterin is an effective inhibitor of L55P TTR amyloidosis, the most aggressive form of TTR diseases. 19664600 2009
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560 1994
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831 1992
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117 1999
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. 2891727 1988
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 CausalMutation CLINVAR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047 1999
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074 2005
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644 2001
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338 2002
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405 2007
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 1351039 1992
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015 2004
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615 2002
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982 1995
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. 10611950 1999
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. 3818577 1986
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 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