TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Transthyretin related familial amyloid cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		0.420 Biomarker disease BEFREE Meanwhile, ATTR amyloidosis increased from 12% to 16% to 29%, predominately due to more diagnosis of ATTRwt and ATTRV122I amyloidosis. 31306033 2019
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		0.420 GeneticVariation disease BEFREE Several therapeutic modalities for mTTR-FAC are currently in clinical trials; thus, it is important to establish the prevalence of TTR mutations (mTTR) and the clinical characteristics of the patients with mTTR-FAC. 26537620 2016
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		0.420 GermlineCausalMutation disease ORPHANET The amyloidogenic V122I transthyretin variant in elderly black Americans. 25551524 2015
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		0.420 GermlineCausalMutation disease ORPHANET The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. 11752443 2001
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		0.420 CausalMutation disease CLINVAR