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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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PGD and intellectual disability are reported together in 1 article.
Gene
PGD
- HGNC
- HGNC:8891
26articles
26mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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 60Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome.
PMID 15065107 | DOI 10.1002/pd.841 · Prenatal diagnosis · 2004 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGD | “In a family with two affected siblings with SSS, preimplantation genetic diagnosis (PGD) was performed.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In Saudi Arabia, the disease is caused by a deletion of 12 bp (155-166nt) in the tubulin-specific chaperone E gene.” | 0.95 | saudi_context_rules_v1 |