Advanced search
Combine gene, variant, phenotype, region and year filters
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.
Knowledge-base search
Publications
1 records shown · first 60Impact of Genetic Variations on Thromboembolic Risk in Saudis with Sickle Cell Disease.
PMID 37895268 | PMCID PMC10606407 | DOI 10.3390/genes14101919 · Genes · 2023 · 31 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs139349992 | “The assessment of the haplotype inheritance pattern involved the top ten significant markers with no LD (rs353988334, rs317777, rs14788626882, rs49188823, rs139349992, rs76076035, rs73395847, rs1368823, rs8888834548, and rs1455957).” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions.” | 0.98 | hgnc_dict_v1 |
| gene | OR51B5 | “Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P).” | 0.98 | hgnc_dict_v1 |
| gene | OR51V1 | “Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P).” | 0.98 | hgnc_dict_v1 |