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EGF and familial hypercholesterolemia are reported together in 1 article.
Gene
EGF
- HGNC
- HGNC:3229
15articles
15mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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
1 records shown · first 60Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.
PMID 35249492 | DOI 10.2174/1570161120666220304101606 · Current vascular pharmacology · 2022 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EGF | “In this study, all the detected variants were confined in the ligand-binding domain and epidermal growth factor (EGF)-precursor homology domain of the LDLR protein, which portrayed severe clinical phenotypes of FH.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LDLR | “Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.” | 0.98 | hgnc_dict_v1 |
| phenotype | coronary artery disease | “FH is a leading cause of coronary artery disease.” | 0.98 | phenotype_alias_lexicon_v2 |