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 |
|---|---|---|---|---|---|---|
| ACT | ACT | Expressivity | Risk factor | Assessment of genotype–phenotype associations, P=0.002 | The ACT TT promoter genotype was associated with an increased risk of EOAD independently from the presence of the apolipoprotein E (APOE) epsilon 4 allelemore | more |
| ACT | Expressivity | Risk factor | OR=3.5, 95% CI: 2.4-5.0; P<0.0001 | A common polymorphism in the signal peptide of ACT confers a significant risk for AD.more | more | |
| ACT | Expressivity | Risk factor and Altered onset time | P=0.001 | ACT-A allele is a risk modifier for LOAD in APOE4 carriersmore | more | |
| ABCA7 | ABCA7:c.2126_2132del(p.Glu709fs) | Expressivity | Altered onset time | With metaskat rare variant association analysis, we observed a fivefold enrichment (p=0.0004) of ptc mutations in eoad patients (3%) versus controls (0.6%). | Premature termination codon (PTC) mutations in the gene ABCA7 are enriched in early onset AD patientsmore | more |
| ABCA7:c.302+1G>C | Expressivity | Altered onset time | With metaskat rare variant association analysis, we observed a fivefold enrichment (p=0.0004) of ptc mutations in eoad patients (3%) versus controls (0.6%). | Premature termination codon (PTC) mutations in the gene ABCA7 are enriched in early onset AD patientsmore | more | |
| ABCA7:c.3577+1G>C | Expressivity | Altered onset time | With metaskat rare variant association analysis, we observed a fivefold enrichment (p=0.0004) of ptc mutations in eoad patients (3%) versus controls (0.6%). | Premature termination codon (PTC) mutations in the gene ABCA7 are enriched in early onset AD patientsmore | more | |
| ABCA7:c.4208del(p.Leu1403fs) | Expressivity | Altered onset time | With metaskat rare variant association analysis, we observed a fivefold enrichment (p=0.0004) of ptc mutations in eoad patients (3%) versus controls (0.6%). | Premature termination codon (PTC) mutations in the gene ABCA7 are enriched in early onset AD patientsmore | more | |
| ABCA7:c.4416+2T>G | Expressivity | Altered onset time | With metaskat rare variant association analysis, we observed a fivefold enrichment (p=0.0004) of ptc mutations in eoad patients (3%) versus controls (0.6%). | Premature termination codon (PTC) mutations in the gene ABCA7 are enriched in early onset AD patientsmore | more | |
| ABCA7:c.5570+5G>C | Expressivity | Altered onset time | With metaskat rare variant association analysis, we observed a fivefold enrichment (p=0.0004) of ptc mutations in eoad patients (3%) versus controls (0.6%). | Premature termination codon (PTC) mutations in the gene ABCA7 are enriched in early onset AD patientsmore | more | |
| ABCA7:c.579+1G>T | Expressivity | Altered onset time | With metaskat rare variant association analysis, we observed a fivefold enrichment (p=0.0004) of ptc mutations in eoad patients (3%) versus controls (0.6%). | Premature termination codon (PTC) mutations in the gene ABCA7 are enriched in early onset AD patientsmore | more |