rs63751210, PSEN1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. 11764087 2001
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.010 GeneticVariation BEFREE Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. 11764087 2001
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. 11764087 2001
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. 9831473 1998