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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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Phenotype
Sickle cell disease
- HPO
- HP:0001878
- OMIM
- 603903
828articles
828mentions
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 60Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
PMID 20437613 | DOI 10.1002/humu.21232 · Human mutation · 2010 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | sickle cell disease | “The UAE has high frequencies of blood disorders including thalassemias, sickle cell disease, and G6PD.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.I589N | “Several novel (p.S2439fs) mutations have been reported including c.7317delA in NF1, c.5C>T (p.A2V) in DKC1, c.1766T>A (p.I589N) in TP63, and c.2117G>T (p.R706L) in VLDLR.” | 0.95 | hgvs_regex_v1 |
| gene | G6PD | “The UAE has high frequencies of blood disorders including thalassemias, sickle cell disease, and G6PD.” | 0.98 | hgnc_dict_v1 |
| gene | NF1 | “Several novel (p.S2439fs) mutations have been reported including c.7317delA in NF1, c.5C>T (p.A2V) in DKC1, c.1766T>A (p.I589N) in TP63, and c.2117G>T (p.R706L) in VLDLR.” | 0.98 | hgnc_dict_v1 |