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PMS2 and leukemia are reported together in 1 article.
Gene
PMS2
- HGNC
- HGNC:9122
19articles
19mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Leukemia
652articles
652mentions
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 60Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.
PMID 32359129 | DOI 10.1002/pbc.28340 · Pediatric blood & cancer · 2020 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PMS2 | “Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TP53 | “Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA1 | “Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.” | 0.98 | hgnc_dict_v1 |