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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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PON1 and stroke are reported together in 1 article.
Gene
PON1
- HGNC
- HGNC:9204
20articles
20mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
coronary artery disease 4diabetes mellitus 3familial hypercholesterolemia 2obesity 2Alzheimer disease 1glucose-6-phosphate dehydrogenase deficiency 1sickle cell disease 1stroke 1
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 60Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
PMID 30183354 | DOI 10.1089/gtmb.2018.0058 · Genetic testing and molecular biomarkers · 2018 · 18 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PON1 | “Coding variants in the GOLGB1, ENPP1, and PON1 genes showed no association with stroke in our study.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CHD7 | “One patient who had both SCD and CHARGE association was heterozygous for pathogenic mutation p.Arg987Ter in the CHD7 gene.” | 0.98 | hgnc_dict_v1 |
| gene | VKORC1 | “One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance.” | 0.98 | hgnc_dict_v1 |