rs121918068, TTR

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405 2007
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation UNIPROT Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 24368466 2013
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 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
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
0.810 GeneticVariation BEFREE A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported. 28412068 2017
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported. 28412068 2017
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.010 GeneticVariation BEFREE A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported. 28412068 2017