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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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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 60In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
PMID 29172679 | DOI 10.1089/cmb.2017.0018 · Journal of computational biology : a journal of computational molecular cell biology · 2018 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | familial hypercholesterolemia | “In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1783C>T | “Missense variants resulting in amino acid changes, c.1429G>A (p.D477N), c.1474G>A (p.D492N), c.1731G>T (p.W577C), and c.1783C>T (p.R595W) in LDLR gene, in addition to c.9835A>G (p.S3279G) in APOB, were shown to be deleterious by concordant analysis.” | 0.95 | hgvs_regex_v1 |
| gene | LDLR | “A total of 21 variants were detected with majority rate in LDLR (81%).” | 0.98 | hgnc_dict_v1 |
| gene | APOB | “Missense variants resulting in amino acid changes, c.1429G>A (p.D477N), c.1474G>A (p.D492N), c.1731G>T (p.W577C), and c.1783C>T (p.R595W) in LDLR gene, in addition to c.9835A>G (p.S3279G) in APOB, were shown to be deleterious by concordant analysis.” | 0.98 | hgnc_dict_v1 |