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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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HBG2 and stroke are reported together in 1 article.

Gene

HBG2

HGNC
HGNC:4832
5articles
5mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype

Stroke

555articles
555mentions
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 60

The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.

PMID 32892201 | PMCID PMC8280415 | DOI 10.1159/000511342 · Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2021 · 6 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneHBG2“This haplotype carries the Xmn1 (C/T) SNP, rs7482144, in the HBG2 locus.”0.98hgnc_dict_v1
phenotypestroke“Pain episodes and avascular necrosis of the femoral head are particularly common, but severe bacterial infections, stroke, priapism, and leg ulcers are uncommon.”0.98phenotype_alias_lexicon_v2
geneBCL11A“The major identified trans-acting QTL contain SNPs residing in the BCL11A on chromosome 2 and the HMIP locus on chromosome 6.”0.98hgnc_dict_v1
phenotypesickle cell disease“The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.”0.98phenotype_alias_lexicon_v2