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 |
|---|---|---|---|---|---|---|
| CD14 | CD14:c.C260T | Expressivity | Risk factor | From review article | Genetic polymorphisms in the promoter region can contribute to draw a risk phenotype of AD.more | more |
| CCL11 | CCL11:c.67G>A(p.Ala23Thr) | Expressivity | Altered onset time | P<0.05 | Eotaxin-1 encoded by CCL11,is a novel modifier of Alzheimer's disease AAO and open potential avenues for therapy.more | more |
| CALHM1 | CALHM1:c.257T>C(p.Leu86Pro) | Expressivity | Altered onset time | P<0.05 | CALHM1 P86L polymorphism may modulate age of onsetmore | more |
| CADPS2 | CADPS2:c.2353-1379C>T | Expressivity | Altered onset time | P=1.54×10(-10) | Novel loci genome-wide significantly associated as modifiers of the age of onset of ADmore | more |
| C3orf20 | C3orf20:c.248A>G(p.Gln83Arg) | Expressivity | Altered onset time | P(FDR)=4.81×10(-7) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| C16orf96 | C16orf96:c.253G>C(p.Val85Leu) | Expressivity | Altered onset time | P(FDR)=4.4×10(-2) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |
| BIN1 | BIN1:n.127618436G>A | Expressivity | Altered onset time | P=0.0001 | The BIN1 locus may modify the AAO of GBA-associated PD.more | more |
| BIN1:n.127894615A>G | Expressivity | Risk factor | P=3.8×10(-20) | The variant near BIN1 (rs744373) as a LOAD risk modifiermore | more | |
| ATXN2 | ATXN2 | Expressivity | Risk factor | P<0.05 | Intermediate repeat lengths in ATXN2 might modify the disease phenotype of C9ORF72 expansion carriers.more | more |
| ATP8B3 | ATP8B3:c.133G>A(p.Gly45Arg) | Expressivity | Altered onset time | P(FDR)=9.57×10(-22) | Genome-wide statistically significant mutations of major modifier effect on the the age of onset (AOO) in Azheimer's diseasemore | more |