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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
Tuberculosis
405articles
405mentions
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 60Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
PMID 11753820 | PMCID PMC384913 | DOI 10.1086/338625 · American journal of human genetics · 2002 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | tuberculosis | “One patient also had clinical disease caused by virulent Mycobacterium tuberculosis, five patients had clinical disease caused by Salmonella serotypes, and one patient had clinical disease caused by Nocardia asteroides.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | g.315_316insA | “In four kindreds from Saudi Arabia, a recessive loss-of-function frameshift insertion (g.315_316insA) was found.” | 0.95 | hgvs_regex_v1 |
| gene | IL12B | “Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.” | 0.98 | hgnc_dict_v1 |
| gene | IL12A | “It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively.” | 0.98 | hgnc_dict_v1 |