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JAK2 and thalassemia are reported together in 2 articles.
Gene
JAK2
- HGNC
- HGNC:6192
83articles
83mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
leukemia 10breast cancer 7diabetes mellitus 7hepatocellular carcinoma 6colorectal cancer 5lung cancer 3multiple myeloma 3stroke 3
Reported variants (articles · ClinVar status)
Phenotype
Thalassemia
- HPO
- HP:0001878
409articles
409mentions
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
2 records shown · first 60Computational modeling and in vitro evaluation identified natural product-Z218 as a novel Janus kinase 2 (JAK2) inhibitor to combat β-thalassemia.
PMID 36999639 | DOI 10.1002/bab.2459 · Biotechnology and applied biochemistry · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | JAK2 | “Computational modeling and in vitro evaluation identified natural product-Z218 as a novel Janus kinase 2 (JAK2) inhibitor to combat β-thalassemia.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Aberrant activity of Janus kinase 2 (JAK2) is a known driver of several myeloproliferative disorders, including polycythemia vera, and thalassemia.” | 0.98 | phenotype_alias_lexicon_v2 |
Exome-wide association study of plasma lipids in >300,000 individuals.
PMID 29083408 | PMCID PMC5709146 | DOI 10.1038/ng.3977 · Nature genetics · 2017 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | JAK2 | “At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | TG | “We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG).” | 0.98 | hgnc_dict_v1 |
| gene | A1CF | “At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data.” | 0.98 | hgnc_dict_v1 |