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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
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Phenotype
Hypertension
828articles
828mentions
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 60Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.
PMID 18362306 | DOI 10.1530/EJE-07-0629 · European journal of endocrinology · 2008 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | hypertension | “METHOD: Three siblings were presented with clinical cortisol resistance, featuring severe hypertension, hypokalemia and hyperandrogenism.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | G679S | “RESULTS: A homozygous G679S mutation was present in the three clinically affected subjects.” | 0.82 | literature_variant_regex_v2 |
| variant | G66A | “Heterozygous G66A (E22E) and G68A (R23K) polymorphisms and G2035A (G679S) mutation were found in the father and two siblings.” | 0.82 | literature_variant_regex_v2 |
| variant | E22E | “Heterozygous G66A (E22E) and G68A (R23K) polymorphisms and G2035A (G679S) mutation were found in the father and two siblings.” | 0.82 | literature_variant_regex_v2 |