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PNP and lymphoma are reported together in 1 article.
Gene
PNP
- HGNC
- HGNC:7892
6articles
6mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Lymphoma
428articles
428mentions
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 60A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
PMID 32514656 | DOI 10.1007/s10875-020-00800-y · Journal of clinical immunology · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PNP | “BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of severe combined immunodeficiency diseases.” | 0.98 | hgnc_dict_v1 |
| phenotype | lymphoma | “A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | systemic lupus erythematosus | “A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CASE PRESENTATION: An 8-year-old Saudi female who was apparently healthy presented at the age of 7 years with confirmed systemic lupus erythematosus (SLE) and lupus nephritis that were poorly controlled with conventional therapy.” | 0.95 | saudi_context_rules_v1 |