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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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Phenotype
Celiac disease
74articles
74mentions
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 60Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease.
PMID 35783297 | PMCID PMC9242504 | DOI 10.3389/fped.2022.895298 · Frontiers in pediatrics · 2022 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | celiac disease | “Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | F468Y | “RESULT: A complex inheritance pattern of PAK2 (V43A), TAP2 (F468Y), and PLCL1 (V473I) genetic variants was observed in the three probands of the AID family.” | 0.82 | literature_variant_regex_v2 |
| gene | PAK2 | “Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease.” | 0.98 | hgnc_dict_v1 |
| gene | TAP2 | “Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease.” | 0.98 | hgnc_dict_v1 |