rs63750643, APP

N. diseases: 3
Disease: Pure Autonomic Failure ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pure Autonomic Failure
CUI: C0393911
Disease: Pure Autonomic Failure
0.010 GeneticVariation BEFREE The atypical clinical phenotype with long prodromal phase, autonomic failure and seizures in this new proband with the APP Thr714Ala mutation illustrates the clinical heterogeneity in families with identical pathogenic mutations. 18187157 2008