Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 GeneticVariation disease BEFREE Analysis of eighteen PIN1 common polymorphisms and their haplotypes in EOAD, LOAD and FTD individuals in comparison with the control group did not reveal their contribution to disease risk.In six unrelated familial AD patients four novel PIN1 sequence variants were detected. c.58+64C>T substitution that was identified in three patients, was located in an alternative exon. 19909517 2009