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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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EPAS1 and Alstrom syndrome are reported together in 1 article.
Gene
EPAS1
- HGNC
- HGNC:3374
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Alstrom syndrome
14articles
14mentions
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 60Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
PMID 27294413 | PMCID PMC4896275 | DOI 10.1186/s40246-016-0063-5 · Human genomics · 2016 · 28 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EPAS1 | “Ucar O47 Allele specific enhancer in EPAS1 intronic regions may contribute to high altitude adaptation of Tibetans C.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alstrom syndrome | “Mejía P28 Genetic modifiers of Alström syndrome J.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | SCN5A | “Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A.” | 0.98 | hgnc_dict_v1 |
| gene | MYC | “Carter O17 Recurrent somatic mutation in the MYC associated factor X in brain tumors H.” | 0.98 | hgnc_dict_v1 |