Disorder "Alzheimer's Disease 3"
Found 7 records
Disorder information
Disorder name:
Alzheimer's Disease 3
Disoder ID:
OMIM entry:
Definition:
An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.
Modifier statisitcs
Record:
7
Gene:
1
Variant:
5
Reference:
1
Effect type:
Expressivity(7)
Modifier effect:
Altered onset time(7)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PSEN1 | PSEN1:c.1307C>A(p.Pro436Gln) | Expressivity | Altered onset time | Pedigree analysis | Mutations causing EOFAD associated with spastic paraparesismore | more |
| PSEN1:c.796G>A(p.Gly266Ser) | Expressivity | Altered onset time | Pedigree analysis | Mutations causing EOFAD associated with spastic paraparesismore | more | |
| PSEN1:c.833G>T(p.Arg278Ile) | Expressivity | Altered onset time | Pedigree analysis | Mutations causing EOFAD associated with spastic paraparesismore | more | |
| PSEN1:c.834A>C(p.Arg278Ser) | Expressivity | Altered onset time | Pedigree analysis | Mutations causing EOFAD associated with spastic paraparesismore | more | |
| PSEN1:c.834A>C(p.Arg278Ser) | Expressivity | Altered onset time | Pedigree analysis | Mutations causing EOFAD associated with spastic paraparesismore | more | |
| PSEN1:c.839A>G(p.Glu280Gly) | Expressivity | Altered onset time | Pedigree analysis | Mutations causing EOFAD associated with spastic paraparesismore | more | |
| PSEN1:c.834A>C(p.Arg278Ser) | Expressivity | Altered onset time | Pedigree analysis | Mutations causing EOFAD associated with spastic paraparesismore | more |
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