Annotation Detail
Information
- Associated Genes
- ABCA7
- Associated Variants
-
ABCA7 p.Thr319Ala (p.T319A)
(
ENST00000263094.11 )
TOMM40 c.275-31A>G ( ENST00000592434.5, ENST00000426677.7, ENST00000252487.9, ENST00000405636.6 )
CR1 c.7353-841T>C ( ENST00000367049.9, ENST00000367052.6, ENST00000400960.7, ENST00000367051.6, ENST00000367053.6 )
ABCA7 p.Thr319Ala (p.T319A) ( ENST00000263094.11 )
TOMM40 c.275-31A>G ( ENST00000252487.9, ENST00000405636.6, ENST00000426677.7, ENST00000592434.5 )
CR1 c.7353-841T>C ( ENST00000367049.9, ENST00000367051.6, ENST00000367052.6, ENST00000367053.6, ENST00000400960.7 ) - Associated Disease
- Alzheimer's disease
- Source Database
- DisGeNET
- Description
- There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs11803956 correlated with Mini-Mental State Examination (MMSE) score (β=1.718, Pcorrected=0.002); ABCA7 SNP rs3752232 correlated with Rey Complex Figure Test (RCFT) copy score (β=-6.861, Pcorrected=0.013); APOE SNP rs2075650 correlated with the percentile of RCFT copy score (β=14.005, Pcorrected=0.021) and the percentile of total score in phonemic fluency (β=11.052, Pcorrected=0.035).
- Pubmed
- 24530172
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.248534250166328
- Year of publication
- 2014
Drugs