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CTLA4 and hemophilia are reported together in 1 article.
Gene
CTLA4
- HGNC
- HGNC:2505
23articles
23mentions
8variants with confirmed gene link
Most co-reported phenotypes (articles)
breast cancer 4systemic lupus erythematosus 3atopic dermatitis 1hemophilia 1hepatitis C 1leukemia 1lung cancer 1
Reported variants (articles · ClinVar status)
Phenotype
Hemophilia
122articles
122mentions
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 scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.
PMID 40263602 | PMCID PMC13285979 | DOI 10.1038/s41435-025-00325-7 · Genes and immunity · 2025 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CTLA4 | “We found that baseline-FEI-status was significantly associated with NOS2A (rs117382854; p = 3.2 × 10-6) and B3GNT2 (rs10176009; p = 5.1 × 10-6)-pleiotropic-IMD-genes known previously to function in anti-microbial-/-tumoral-immunity but not in the development of FEIs-and confirmed associations with CTLA4 (rs231780; p = 2.2 × 10-5).” | 0.98 | hgnc_dict_v1 |
| phenotype | hemophilia | “A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | F8 | “Hemophilia-A (HA) is the X-linked bleeding disorder caused by heterogeneous factor (F)VIII gene (F8)-mutations and deficiencies in plasma-FVIII-activity that prevent intrinsic-pathway mediated coagulation-amplification.” | 0.98 | hgnc_dict_v1 |
| gene | B3GNT2 | “We found that baseline-FEI-status was significantly associated with NOS2A (rs117382854; p = 3.2 × 10-6) and B3GNT2 (rs10176009; p = 5.1 × 10-6)-pleiotropic-IMD-genes known previously to function in anti-microbial-/-tumoral-immunity but not in the development of FEIs-and confirmed associations with CTLA4 (rs231780; p = 2.2 × 10-5).” | 0.98 | hgnc_dict_v1 |