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 |
|---|---|---|---|---|---|---|
| ZNF646 | ZNF646:c.980A>G(p.Glu327Gly) | Expressivity | Altered onset time | P(FDR)=1.35×10(-18) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| XRN1 | XRN1:c.1883+365T>C | Expressivity | Altered onset time | P=0.01861 | Genetic variation in these new candidate genes affects the risk of late-onset Alzheimer’s disease.more | more |
| WDR46 | WDR46:c.280A>G(p.Thr94Ala) | Expressivity | Altered onset time | P(FDR)=7.92×10(-10) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| UBE2I | UBE2I:c.*24A>G | Expressivity | Risk factor | P<0.05 | The genotypes of two SNPs (rs8052688, rs8063) were significantly associated with the risk of MCI among womenmore | more |
| UBE2I:c.413+1665G>C | Expressivity | Risk factor | P<0.05 | The genotypes of two SNPs (rs8052688, rs8063) were significantly associated with the risk of MCI among womenmore | more | |
| UBE2I:c.414-207A>G | Expressivity | Risk factor | OR=1.45, P=0.046, 95% CI: 1.01-2.08 | UBE2I polymorphisms might be associated with a risk of AD and MCI.more | more | |
| TTBK2 | TTBK2:c.23T>C(p.Leu8Pro) | Expressivity | Altered onset time | P(FDR)=4.27×10(-2) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| TSHZ3 | TSHZ3:rs557330136 | Expressivity | Altered gene activity | Gene activity study | Impaired SORL1 protein function, and possibly impaired TSHZ3 function, further disturbed Aβ processingmore | more |
| TREM2 | TREM2:c.140G>A(p.Arg47His) | Expressivity | Risk factor | OR=2.19; 95% CI: 1.04-4.51; P=0.03 | We find p.R47H is a risk factor for AD, but not frontotemporal dementia or prion disease.more | more |
| TNF | TNF:c.-308G>A | Expressivity | Altered onset time | P=0.0023 | At least in Caucasians, the TNF gene is a disease modifier gene in patients in which AD is risingmore | more |