rs121918094, TTR

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 24368466 2013
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405 2007
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626 2007
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074 2005
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 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
0.800 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
0.800 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338 2002
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644 2001
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047 1999
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117 1999
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 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
0.800 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412 1999
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351 1997
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 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
0.800 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
0.800 GeneticVariation UNIPROT Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 1351039 1992
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831 1992
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 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
0.800 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
0.800 GeneticVariation UNIPROT Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. 3818577 1986
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.800 CausalMutation CLINVAR
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient. 25488473 2015
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE We found the following: (i) decreased secretion with intracellular aggregation of TTR L12P in hepatoma cells relative to WT and V30M variant; this differential property of TTR L12P variant was also observed in mice injected with L12P AAV vector; (ii) differential N-glycosylation pattern of L12P variant in hepatoma cell lysates, conditioned media and mouse sera, which might represent an escape mechanism from ERAD degradation; (iii) intracellular L12P TTR aggregates mainly localized to lysosomes in cultured cells and liver; and (iv) none of the above findings were present in choroid plexus derived cells, suggesting particular secretion/quality control mechanisms that might contribute to leptomeningeal amyloidosis associated with the L12P variant. 23579071 2013