rs1057519753, JAK1

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute lymphoblastic leukemia with lymphomatous features
0.700 GeneticVariation CLINVAR Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 21680795 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 21680795 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression. 21436584 2011
Leukemia, Acute, X-Linked
CUI: C3501854
Disease: Leukemia, Acute, X-Linked
0.700 GeneticVariation CLINVAR Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 19139102 2009
Acute lymphoblastic leukemia with lymphomatous features
0.700 GeneticVariation CLINVAR Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. 19838194 2009
Acute lymphoblastic leukemia with lymphomatous features
0.700 GeneticVariation CLINVAR JAK mutations in high-risk childhood acute lymphoblastic leukemia. 19470474 2009
Acute lymphoblastic leukemia with lymphomatous features
0.700 GeneticVariation CLINVAR Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 19139102 2009
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.700 GeneticVariation CLINVAR JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. 16239216 2005
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation BEFREE This mutation was identical to the JAK1 V658F mutation previously found in human APL and acute lymphoblastic leukemia samples. 21436584 2011
leukemia
CUI: C0023418
Disease: leukemia
0.010 GeneticVariation BEFREE Further analysis showed that JAK1 V658F cooperated in vivo with PML-RARA, causing a rapidly fatal leukemia in mice. 21436584 2011
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE This mutation was identical to the JAK1 V658F mutation previously found in human APL and acute lymphoblastic leukemia samples. 21436584 2011
Acute Promyelocytic Leukemia
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
0.010 GeneticVariation BEFREE Sequencing of a mouse APL genome revealed 3 somatic, nonsynonymous mutations relevant to APL pathogenesis, of which 1 (Jak1 V657F) was found to be recurrent in other affected mice. 21436584 2011
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.010 GeneticVariation BEFREE Further analysis showed that JAK1 V658F cooperated in vivo with PML-RARA, causing a rapidly fatal leukemia in mice. 21436584 2011