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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 60Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.
PMID 32489286 | PMCID PMC7254030 | DOI 10.1016/j.sjbs.2020.04.011 · Saudi journal of biological sciences · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | celiac disease | “Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Thr81Ala | “Through whole exome sequencing (WES), we identified that both siblings have inherited an extremely rare and deleterious CPED1 genetic variant (c.241 A > G; p.Thr81Ala) segregating as autosomal recessive mutation, suggesting its putative causal role in the CD.” | 0.95 | hgvs_regex_v1 |
| gene | CPED1 | “Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.” | 0.98 | hgnc_dict_v1 |
| gene | MAF | “Saudi population specific minor allele frequency (MAF) analysis has confirmed its extremely rare prevalence in homozygous condition (MAF is 0.0004).” | 0.98 | hgnc_dict_v1 |