Disorder "Alzheimer's Disease"
Found 124 records
Disorder information
Disorder name:
Alzheimer's Disease
Disoder ID:
Synonyms:
Alzheimer disease, Alzheimers dementia
Definition:
A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
Modifier statisitcs
Record:
124
Gene:
64
Variant:
115
Reference:
37
Effect type:
Expressivity(97)
,Penetrance(27)
Modifier effect:
Altered onset time(62)
,Altered incidence(27)
,Risk factor(25)
,Risk factor and Altered onset time(3)
,Altered gene activity(2)
,Altered cognitive performances(1)
,Altered intraocular pressure(1)
,Altered optic nerve damage(1)
,Altered severity(1)
,Altered severity and onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PSEN1 | PSEN1:p.Ser290Cys | Penetrance | Altered incidence | From review article | A protective factor in some individuals and raise the prospect that modifier genes may underlie this phenotypic heterogeneity.more | more |
| PPP2R5C | PPP2R5C:c.188-7107A>G | Expressivity | Altered onset time | P=0.009017 | Genetic variation in these new candidate genes affects the risk of late-onset Alzheimer’s disease.more | more |
| PICALM | PICALM:c.1944+4362T>C | Expressivity | Altered severity | P=0.0102 | Genetic variation in these new candidate genes affects the risk of late-onset Alzheimer’s disease.more | more |
| OR52E4 | OR52E4:c.683G>A(p.Arg228His) | Expressivity | Altered onset time | P(FDR)=6.86×10(-13) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| OPRM1 | OPRM1:c.1323A>G(p.Gly441Gly) | Expressivity | Altered onset time | P(FDR)=1.15×10(-33) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| NPHP1 | NPHP1:n.-2533T>C | Expressivity | Altered onset time | P=1.74×10(-12) | Novel loci genome-wide significantly associated as modifiers of the age of onset of ADmore | more |
| NFATC1 | NFATC1:c.2251T>G(p.Cys751Gly) | Expressivity | Altered onset time | P(FDR)=1.34×10(-8) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| MYCBPAP | MYCBPAP:c.371G>A(p.Arg124His) | Expressivity | Altered onset time | P(FDR)=6.06×10(-27) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| mitochondria | mitochondria:c.T4336C | Penetrance | Altered incidence | Present in 5 of 139 cases and none of 82 controls; odds ratio = infinity, 95% CI 0.73 to infinity | The T4336C variant was associated with diseasemore | more |
| MAGI3 | MAGI3:c.3953G>A(p.Gly1318Asp) | Expressivity | Altered onset time | P(FDR)=4.38×10(-34) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |