rs267607161, TTR

N. diseases: 16
Disease: Adenomatous Polyposis Coli ×
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
0.050 GeneticVariation BEFREE This study confirmed the structural modulation effect of tafamidis on A97S-TTR and implied the potential therapeutic benefit of tafamidis for A97S TTR-FAP. 31502419 2019
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.050 GeneticVariation BEFREE This is the first FAP family with a proven missense mutation c.349G>T in Mainland China, as well as the first FAP case with chronic paroxysmal dry cough. 30361054 2019
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.050 GeneticVariation BEFREE These results demonstrate that the hTTR<sup>A97S</sup> mouse model develops sensory nerve pathology and corresponding physiology mimicking A97S-FAP and provides a platform to develop new therapies for the early stage of A97S-FAP. 29423915 2018
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.050 GeneticVariation BEFREE This study investigated skin innervation and its clinical significance in genetically defined FAP due to a hot-spot Ala97Ser TTR mutation (Ala97Ser). 20697105 2010
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.050 GeneticVariation BEFREE ATTR Asp38Ala and ATTR Ala97Ser are previously unknown variants of TTR leading to the development of FAP. 10611950 1999