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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
3 records shown · first 60A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.
PMID 36864712 | PMCID PMC9989977 | DOI 10.12659/AJCR.938488 · The American journal of case reports · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | leukemia | “A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | V617F | “A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F Mutation in the JAK2 Gene.” | 0.98 | hgnc_dict_v1 |
| gene | BCR | “BACKGROUND Breakpoint cluster region (BCR)-Abelson murine leukemia (ABL1) and Janus Kinase-2 (JAK2) mutations have been thought to be mutually exclusive in myeloproliferative neoplasms (MNPs), but recent data suggest that they can occur together.” | 0.98 | hgnc_dict_v1 |
Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.
PMID 35189054 | DOI 10.18388/abp.2020_5945 · Acta biochimica Polonica · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | leukemia | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | V617F | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population. The aim of this study was to induce V617F mutation in the JAK2 gene in the AML patients diagnosed in the Saudi population. In this case-control study, 100 AML patients and 100 healthy controls were recruited. In conclusion, the V617F mutation showed the positive association in the AML patients diagnosed in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
Essential Thrombocythemia in Children: A Retrospective Study.
PMID 34267847 | PMCID PMC8256913 | DOI 10.14740/jh822 · Journal of hematology · 2021 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | leukemia | “Myeloproliferative leukemia virus oncogene (MPL) exon 10 and calreticulin (CALR) mutations were tested in eight patients, which were negative for all of them.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | V617F | “Janus kinase 2 gene (JAK2) V617F mutation was positive in two of 26 patients (7.7%).” | 0.82 | literature_variant_regex_v2 |
| gene | JAK2 | “Janus kinase 2 gene (JAK2) V617F mutation was positive in two of 26 patients (7.7%).” | 0.98 | hgnc_dict_v1 |
| gene | MPL | “Myeloproliferative leukemia virus oncogene (MPL) exon 10 and calreticulin (CALR) mutations were tested in eight patients, which were negative for all of them.” | 0.98 | hgnc_dict_v1 |