| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.780 | GeneticVariation | BEFREE | Patients with V122I-hATTR-CM were more impaired functionally ( P<0.001) and had worse measures of cardiac disease ( P<0.001) at the time of diagnosis, a greater decline in quality of life, and poorer survival ( P<0.001) in comparison with the other subgroups. | 31109193 | 2019 |
||||
|
0.780 | GeneticVariation | BEFREE | Structural changes caused by the V122I cardiomyopathy-associated mutation are restricted to the immediate vicinity of the mutation site, directly perturbing the subunit interfaces. | 29972637 | 2018 |
||||
|
0.780 | GeneticVariation | BEFREE | Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans. | 28102864 | 2017 |
||||
|
0.780 | GeneticVariation | BEFREE | To the best of our knowledge, we describe the larger report of Caucasian patients with Val142Ile cardiomyopathy. | 26428663 | 2016 |
||||
|
0.780 | GeneticVariation | BEFREE | In Afro-Caribbean patients, ATTR V122I is an underappreciated cause of heart failure, and cardiomyopathy is often misattributed to hypertension. | 27618855 | 2016 |
||||
|
0.780 | GeneticVariation | BEFREE | Predominant symptom presentation in patients with hereditary TTR amyloidosis differed according to the underlying disease-causing mutation (polyneuropathy for Val30Met, cardiomyopathy for Val122Ile and Leu111Met, and mixed for Glu89Gln). | 23193944 | 2013 |
||||
|
0.780 | GeneticVariation | BEFREE | ATTR V122I and AL are equally prevalent as the cause of cardiomyopathy in African Americans referred for a diagnosis of amyloidosis. | 19781421 | 2009 |
||||
|
0.780 | GeneticVariation | BEFREE | The V122I variant is the most common amyloidogenic mutation worldwide, producing familial amyloidotic cardiomyopathy primarily in individuals of African descent. | 11752443 | 2001 |
||||
|
A | 0.780 | CausalMutation | CLINVAR |