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APOE and familial hypercholesterolemia are reported together in 2 articles.
Gene
APOE
- HGNC
- HGNC:613
46articles
46mentions
6variants with confirmed gene link
Most co-reported phenotypes (articles)
Alzheimer disease 18diabetes mellitus 6Parkinson disease 5dyslipidemia 5coronary artery disease 3stroke 3amyotrophic lateral sclerosis 2familial hypercholesterolemia 2
Reported variants (articles · ClinVar status)
Phenotype
Familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
165articles
165mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.
PMID 36619676 | PMCID PMC9812717 | DOI 10.1016/j.sjbs.2022.103554 · Saudi journal of biological sciences · 2023 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOE | “Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “BACKGROUND: Hypercholesterolemia is a common cardiovascular risk factor.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CELSR2 | “Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.” | 0.98 | hgnc_dict_v1 |
| gene | ABCG5 | “Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.” | 0.98 | hgnc_dict_v1 |
Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.
PMID 29204218 | PMCID PMC5688386 | DOI 10.2174/1874192401711010084 · The open cardiovascular medicine journal · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APOE | “Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “BACKGROUND: Apolipoprotein E (APOE) gene is a ligand protein in humans which mediates the metabolism of cholesterol by binding to the low-density lipoprotein receptor (LDLR).” | 0.98 | hgnc_dict_v1 |