Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE MUTATION
APOE MUTATION - Associated Disease
- Hypercholesterolemia, Familial
- Source Database
- DisGeNET
- Description
- Metaanalysis of the weighted 6-SNP score, on the basis of polymorphisms in CELSR2 (cadherin, EGF LAG 7-pass G-type receptor 2), APOB (apolipoprotein B), ABCG5/8 [ATP-binding cassette, sub-family G (WHITE), member 5/8], LDLR (low density lipoprotein receptor), and APOE (apolipoprotein E) loci, in the independent FH/M- cohorts showed a consistently higher score in comparison to the WHII population (P < 2.2 × 10(-16)).
- Pubmed
- 25414277
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD
- DisGENET score for the Gene Disease association
- 0.137535439206697
Drugs