TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Familial Amyloid Neuropathy, Portuguese Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease BEFREE Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families. 19364362 2009
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease CTD_human [Therapeutic strategy for familial amyloid polyneuropathy (FAP)]. 20030258 2009
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE Familial amyloid polyneuropathy type I (FAP-I) is caused by a mutant transthyretin (TTR V30M) produced by liver, and orthotopic liver transplantation (OLT) is a widely accepted treatment for stopping the major production of TTR V30M. 17453623 2007
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. 16630162 2006
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease CTD_human The crystal structure of transthyretin in complex with diethylstilbestrol: a promising template for the design of amyloid inhibitors. 15469931 2004
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE Late-onset type I familial amyloid polyneuropathy (FAP TTR Met30) cases unrelated to endemic foci in Japan show clinical features setting them apart from early-onset cases in endemic foci. 15249622 2004
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE The disease, also called familial amyloid polyneuropathy type I (FAP-I), is caused by a mutant transthyretin (TTR) protein, which is synthesized by the liver. 12832749 2003
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease CTD_human Evidence of oxidative stress in familial amyloidotic polyneuropathy type 1. 12707074 2003
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE Portuguese type familial amyloid polyneuropathy (FAP) is a neuropathic amyloidosis caused by a mutant transthyretin (TTR). 12584275 2003
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease BEFREE Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment. 11261421 2001
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE Argentinian patients from three families with neuropathic amyloidosis and their relatives were screened for mutated TTR by ESI-MS. 10691052 1999
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease CTD_human A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. 10529370 1999
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease BEFREE Ineffectiveness of dialysis in transthyretin (TTR) clearance in familial amyloid polyneuropathy type I, in spite of lower stability of the TTR Met30 variant. 9988146 1999
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. 10506096 1999
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease BEFREE Renal amyloidosis has been considered rare and late in the evolution of the transthyretin (TTR) familial amyloid polyneuropathy (FAP) of the Portuguese type (type I). 9631837 1998
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease BEFREE Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. 1517749 1992
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 GeneticVariation disease BEFREE Type I familial amyloid polyneuropathy (FAP) is a molecular disorder with a mutation of the transthyretin (TTR) gene, and most patients previously examined were reported to be heterozygous for this mutant gene. 1490495 1992
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		0.400 Biomarker disease BEFREE Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. 1858483 1991