PedAM
Pediatric Disease Annotations & Medicines
| thrombocytosis | ||||
| Disease ID | 711 |
|---|---|
| Disease | thrombocytosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0040053 | thrombosis | 10 C1264195 | refractory anemia with ringed sideroblasts | 4 C0027022 | myeloproliferative disorders | 2 C0796095 | c syndrome | 2 C0023434 | chronic lymphocytic leukemia | 2 C0019080 | hemorrhage | 1 C0040038 | thromboembolism | 1 C0008680 | chronic eosinophilic pneumonia | 1 C0014804 | erythromelalgia | 1 C0007787 | transient ischemic attacks | 1 C0333205 | mural thrombus | 1 C0151945 | cerebral venous thrombosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:71) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs12041331 | 25360888 | 5742 | PTGS1 | umls:C0836924 | BeFree | The A-allele of the rs12041331 SNP in the platelet endothelial aggregation receptor-1 (PEAR1) gene was associated with reduced platelet aggregation and increased platelet activation, but not with cyclooxygenase-1 activity. | 0.000542884 | 2014 | PEAR1 | 1 | 156899922 | G | A |
| rs12041331 | 25360888 | 375033 | PEAR1 | umls:C0836924 | BeFree | The A-allele of the rs12041331 SNP in the platelet endothelial aggregation receptor-1 (PEAR1) gene was associated with reduced platelet aggregation and increased platelet activation, but not with cyclooxygenase-1 activity. | 0.000542884 | 2014 | PEAR1 | 1 | 156899922 | G | A |
| rs121913614 | 19608689 | 4352 | MPL | umls:C0836924 | BeFree | Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. | 0.13869327 | 2009 | MPL | 1 | 43349308 | G | A |
| rs121913614 | 14764528 | 4352 | MPL | umls:C0836924 | BeFree | A unique point mutation, serine 505 to asparagine 505 (Ser505Asn), was identified in the transmembrane domain of the c-MPL gene in all of the 8 members with thrombocythemia, but in none of the other 8 unaffected members in this FET family. | 0.13869327 | 2004 | MPL | 1 | 43349308 | G | A |
| rs121913614 | 19713221 | 4352 | MPL | umls:C0836924 | BeFree | Background The MPL(Ser505Asn) mutation has been reported to be a cause of hereditary thrombocythemia. | 0.13869327 | 2010 | MPL | 1 | 43349308 | G | A |
| rs121913615 | 19843380 | 4352 | MPL | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.13869327 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19843380 | 3717 | JAK2 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.164325815 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913615 | 19843380 | 25 | ABL1 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.002171535 | 2009 | MPL | 1 | 43349338 | G | T |
| rs121913616 | 19843380 | 25 | ABL1 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.002171535 | 2009 | NA | NA | NA | NA | NA |
| rs121913616 | 19843380 | 3717 | JAK2 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.164325815 | 2009 | NA | NA | NA | NA | NA |
| rs121913616 | 19843380 | 4352 | MPL | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.13869327 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 3717 | JAK2 | umls:C0836924 | BeFree | Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation. | 0.164325815 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 20633767 | 3717 | JAK2 | umls:C0836924 | BeFree | A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. | 0.164325815 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 4352 | MPL | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.13869327 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17145859 | 3717 | JAK2 | umls:C0836924 | BeFree | We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis. | 0.164325815 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 19939582 | 3717 | JAK2 | umls:C0836924 | BeFree | The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. | 0.164325815 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 21350094 | 3717 | JAK2 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.164325815 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 21350094 | 54790 | TET2 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 22686448 | 3717 | JAK2 | umls:C0836924 | BeFree | Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count. | 0.164325815 | 2012 | NA | NA | NA | NA | NA |
| rs386626619 | 21350094 | 7531 | YWHAE | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 20194893 | 3717 | JAK2 | umls:C0836924 | BeFree | Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. | 0.164325815 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 21350094 | 5048 | PAFAH1B1 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 21242185 | 3717 | JAK2 | umls:C0836924 | BeFree | These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. | 0.164325815 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23594705 | 23451 | SF3B1 | umls:C0836924 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.001085767 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 25 | ABL1 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.002171535 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18160670 | 3717 | JAK2 | umls:C0836924 | BeFree | Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis. | 0.164325815 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 24399021 | 3717 | JAK2 | umls:C0836924 | BeFree | Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. | 0.164325815 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 21350094 | 83886 | PRSS27 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000542884 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 18534315 | 3717 | JAK2 | umls:C0836924 | BeFree | His postoperative management included the examination of his peripheral blood as well as bone marrow, which confirmed that the cause of his elevated platelet count was due to JAK2 V617F mutation that is treated by hydroxyurea and aspirin after being discharged from the hospital. | 0.164325815 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 23594705 | 3717 | JAK2 | umls:C0836924 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.164325815 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23594705 | 10992 | SF3B2 | umls:C0836924 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.000814326 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19843380 | 3717 | JAK2 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.164325815 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 23613267 | 3717 | JAK2 | umls:C0836924 | BeFree | In light of the findings from previous reports, screening for the JAK2-V617F mutation should be considered for any Ph(+) CML patients with thrombocytosis, leukocytosis, or erythrocytosis at diagnosis and for patients who subsequently develop thrombocytosis, leukocytosis, or erythrocytosis during follow-up, even for CML patients in complete cytogenetic response and major molecular response. | 0.164325815 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16916724 | 3717 | JAK2 | umls:C0836924 | BeFree | The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone necessitates a sensitive molecular assay for the diagnostic investigation of thrombocytosis. | 0.164325815 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 21350094 | 171023 | ASXL1 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 17285276 | 25 | ABL1 | umls:C0836924 | BeFree | Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation. | 0.002171535 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 17183644 | 3717 | JAK2 | umls:C0836924 | BeFree | The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. | 0.164325815 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 21350094 | 23451 | SF3B1 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.001085767 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23057517 | 4352 | MPL | umls:C0836924 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.13869327 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 16670082 | 3717 | JAK2 | umls:C0836924 | BeFree | Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. | 0.164325815 | 2006 | NA | NA | NA | NA | NA |
| rs5174 | 23524007 | 7804 | LRP8 | umls:C0836924 | BeFree | Our previous studies identified a functional SNP, R952Q in the LRP8 gene, that was associated with increased platelet activation and familial and early-onset coronary artery disease (CAD) and myocardial infarction (MI) in American and Italian Caucasian populations. | 0.000814326 | 2013 | LRP8 | 1 | 53247055 | C | T |
| rs77375493 | 19939582 | 3717 | JAK2 | umls:C0836924 | BeFree | The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. | 0.164325815 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23594705 | 10992 | SF3B2 | umls:C0836924 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.000814326 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17285276 | 25 | ABL1 | umls:C0836924 | BeFree | Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation. | 0.002171535 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21350094 | 3717 | JAK2 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.164325815 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 4352 | MPL | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.13869327 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24399021 | 3717 | JAK2 | umls:C0836924 | BeFree | Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. | 0.164325815 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20194893 | 3717 | JAK2 | umls:C0836924 | BeFree | Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. | 0.164325815 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21350094 | 5048 | PAFAH1B1 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17183644 | 3717 | JAK2 | umls:C0836924 | BeFree | The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. | 0.164325815 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23057517 | 4352 | MPL | umls:C0836924 | BeFree | Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. | 0.13869327 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21242185 | 3717 | JAK2 | umls:C0836924 | BeFree | These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. | 0.164325815 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 25 | ABL1 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.002171535 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17285276 | 3717 | JAK2 | umls:C0836924 | BeFree | Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation. | 0.164325815 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21350094 | 171023 | ASXL1 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16670082 | 3717 | JAK2 | umls:C0836924 | BeFree | Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. | 0.164325815 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21350094 | 23451 | SF3B1 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.001085767 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18534315 | 3717 | JAK2 | umls:C0836924 | BeFree | His postoperative management included the examination of his peripheral blood as well as bone marrow, which confirmed that the cause of his elevated platelet count was due to JAK2 V617F mutation that is treated by hydroxyurea and aspirin after being discharged from the hospital. | 0.164325815 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23613267 | 3717 | JAK2 | umls:C0836924 | BeFree | In light of the findings from previous reports, screening for the JAK2-V617F mutation should be considered for any Ph(+) CML patients with thrombocytosis, leukocytosis, or erythrocytosis at diagnosis and for patients who subsequently develop thrombocytosis, leukocytosis, or erythrocytosis during follow-up, even for CML patients in complete cytogenetic response and major molecular response. | 0.164325815 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21350094 | 54790 | TET2 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 22686448 | 3717 | JAK2 | umls:C0836924 | BeFree | Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count. | 0.164325815 | 2012 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23594705 | 23451 | SF3B1 | umls:C0836924 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.001085767 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19843380 | 3717 | JAK2 | umls:C0836924 | BeFree | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. | 0.164325815 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21350094 | 7531 | YWHAE | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000271442 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23594705 | 3717 | JAK2 | umls:C0836924 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.164325815 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18160670 | 3717 | JAK2 | umls:C0836924 | BeFree | Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis. | 0.164325815 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16916724 | 3717 | JAK2 | umls:C0836924 | BeFree | The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone necessitates a sensitive molecular assay for the diagnostic investigation of thrombocytosis. | 0.164325815 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21350094 | 83886 | PRSS27 | umls:C0836924 | BeFree | The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. | 0.000542884 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17145859 | 3717 | JAK2 | umls:C0836924 | BeFree | We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis. | 0.164325815 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20633767 | 3717 | JAK2 | umls:C0836924 | BeFree | A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. | 0.164325815 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs773857 | 22228373 | 6403 | SELP | umls:C0836924 | BeFree | rs773857 risk allele homozygotes have significantly increased platelet counts and platelets showed a significant increase in P-selectin release after activation (P = 0.004). | 0.000814326 | 2012 | CPAMD8 | 19 | 16908042 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:8) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0836924 | anagrelide | C021139 | - | thrombocytosis | MESH:D013922 | therapeutic | 15813844 | ||
| C0836924 | busulfan | D002066 | 55-98-1 | thrombocytosis | MESH:D013922 | therapeutic | 15886082 | ||
| C0836924 | hydroxyurea | D006918 | 127-07-1 | thrombocytosis | MESH:D013922 | therapeutic | 11722451 | ||
| C0836924 | imipramine | D007099 | 50-49-7 | thrombocytosis | MESH:D013922 | marker/mechanism | 7751253 | ||
| C0836924 | methylphenidate | D008774 | 113-45-1 | thrombocytosis | MESH:D013922 | marker/mechanism | 7751253 | ||
| C0836924 | thalidomide | D013792 | 50-35-1 | thrombocytosis | MESH:D013922 | marker/mechanism | 11972510 | ||
| C0836924 | vindesine | D014751 | 53643-48-4 | thrombocytosis | MESH:D013922 | marker/mechanism | 6282107 | ||
| C0836924 | zidovudine | D015215 | 30516-87-1 | thrombocytosis | MESH:D013922 | marker/mechanism | 11710542 | ||
FDA approved drug and dosage information(Total Drugs:10) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D013922 | busulfex | busulfan | 6MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
| MESH:D013922 | daytrana | methylphenidate | 10MG/9HR (1.1MG/HR) | FILM, EXTENDED RELEASE;TRANSDERMAL | Prescription | None | Yes | No |
| MESH:D013922 | daytrana | methylphenidate | 10MG/9HR (1.1MG/HR) | FILM, EXTENDED RELEASE;TRANSDERMAL | Prescription | None | Yes | No |
| MESH:D013922 | daytrana | methylphenidate | 10MG/9HR (1.1MG/HR) | FILM, EXTENDED RELEASE;TRANSDERMAL | Prescription | None | Yes | No |
| MESH:D013922 | retrovir | zidovudine | 100MG | CAPSULE;ORAL | Prescription | AB | Yes | Yes |
| MESH:D013922 | retrovir | zidovudine | 50MG/5ML | SYRUP;ORAL | Prescription | AA | Yes | Yes |
| MESH:D013922 | retrovir | zidovudine | 10MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
| MESH:D013922 | retrovir | zidovudine | 200MG | TABLET;ORAL | Discontinued | None | No | No |
| MESH:D013922 | zidovudine | zidovudine | 60MG | TABLET;ORAL | Discontinued | None | No | No |
| MESH:D013922 | zidovudine | zidovudine | 60MG | TABLET;ORAL | Discontinued | None | No | No |
FDA labeling changes(Total Drugs:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D013922 | 01/13/2003 | busulfex | busulfan | Part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases | The population pharmacokinetic estimates of busulfan for clearance and volume of distribution were determined in an open-label, uncontrolled PK study in 24 pediatric patients 5 months to 16 years who received busulfan as part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases Suggested dosing regimen | Labeling | B | - | - | - | Orphan Medical | 12/3/2002 | FALSE' |
| MESH:D013922 | 6/4/2006 | daytrana | methylphenidate | ADHD | Summary is pending | Labeling | - | P | - | - | Shire | - | FALSE' |
| MESH:D013922 | 12/14/2009 | daytrana | methylphenidate | Postmarketing safety study | Information added to Warnings and Adverse Reactions on skin reactions observed in a postmarketing dermal study in pediatric patients | Labeling | - | P | - | - | Shire | - | FALSE' |
| MESH:D013922 | 06/29/2010 | daytrana | methylphenidate | ADHD | Expanded pediatric indication to include adolescent patients ages13-17 years The most commonly reported adverse reactions in a trial in patients 13-17 years included appetite decreased, nausea, insomnia, weight decreased, dizziness, abdominal pain, and anorexia. The majority of patients had erythema at the application site Information on PK parameters, Adverse Event profile and clinical studies | Labeling | - | P | - | - | Shire | - | FALSE' |
| MESH:D013922 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D013922 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D013922 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D013922 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D013922 | 09/19/2008 | retrovir syrup, capsules and tablets | zidovudine | Used in combination with 18 other antiretroviral agents for the treatment of HIV-1 infection | Dosing and administration information provided to children 6 weeks to less than 18 years of age Macrocytosis was reported in the majority of pediatric patients receiving Retrovir 180 mg/m2 every 6 hours in open-label studies New dosing regimen | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D013922 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |