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 |
|---|---|---|---|---|---|---|
| KLHDC4 | KLHDC4:c.166C>G(p.Leu56Val) | Expressivity | Altered onset time | P(FDR)=2.75×10(-3) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| KLHDC4:c.218G>T(p.Gly73Val) | Expressivity | Altered onset time | P(FDR)=4.00×10(-2) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more | |
| IL6 | IL6:c.-174C>G | Expressivity | Risk factor | Odds ratio (OR) = 0.70, 95% confidence interval (CI) = 0.54-0.90 | Genotype CC of IL-6 -174 G/C could decrease the risk of ADmore | more |
| IL6:c.-174C>G | Expressivity | Risk factor | OR=0.65, 95% CI=0.52-0.82 | Genotype CC of IL-6-174 G/C and genotype GG plus GC of IL-6-572 C/G could decrease the risk of AD.more | more | |
| IL6:c.-572C/G | Expressivity | Risk factor | OR=0.73, 95% CI=0.62-0.86 | Genotype CC of IL-6-174 G/C and genotype GG plus GC of IL-6-572 C/G could decrease the risk of AD.more | more | |
| IL1B | IL1B:c.-511T>C | Expressivity | Risk factor | Assessment of genotype–phenotype associations | The interleukin 1beta gene promoter polymorphism (-511) acts as a risk factor for psychosis in Alzheimer's dementiamore | more |
| IL1A | IL1A:c.-889C>T | Expressivity | Risk factor | From review article | Our updated meta-analysis suggested that the - 889C > T polymorphism may be a factor in ADmore | more |
| HMGCR | HMGCR:c.1722+45A>G | Expressivity | Altered severity and onset time | OR=0.521; P=0.0028 | HMGCR rs3846662 acts as a potent genetic modifier for AD risk, age of onset and conversion.more | more |
| HMGCR:c.1722+45A>G | Penetrance | Altered incidence | OR=0.796, P=0.02, 95% CI: 0.657-0.965 | A allele of HMGCR rs3846662 acts as a protective factor for the late-onset AD in northern Han Chinese.more | more | |
| HERC6 | HERC6:c.368T>C(p.Met123Thr) | Expressivity | Altered onset time | P(FDR)=3.58×10(-15) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |