DisGeNET - a database of gene-disease associations

Acute lymphoblastic leukemia with lymphomatous features, C1855472

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913461

ABL1

0.700

GeneticVariation

CLINVAR

BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study.

11853795

2002

dbSNP:

rs121913459

ABL1

0.700

GeneticVariation

CLINVAR

Ph(+) acute lymphoblastic leukemia resistant to the tyrosine kinase inhibitor STI571 has a unique BCR-ABL gene mutation.

11861307

2002

dbSNP:

rs121913461

ABL1

0.700

GeneticVariation

CLINVAR

Kinase domain point mutations in Philadelphia chromosome-positive acute lymphoblastic leukemia emerge after therapy with BCR-ABL kinase inhibitors.

18615627

2008

dbSNP:

rs1057519721

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

18805579

2008

dbSNP:

rs1057519722

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

18805579

2008

dbSNP:

rs1057519723

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

18805579

2008

dbSNP:

rs1057519723

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

18805579

2008

dbSNP:

rs1057519753

JAK1

0.700

GeneticVariation

CLINVAR

Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers.

19139102

2009

dbSNP:

rs1057519721

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

JAK mutations in high-risk childhood acute lymphoblastic leukemia.

19470474

2009

dbSNP:

rs1057519722

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

JAK mutations in high-risk childhood acute lymphoblastic leukemia.

19470474

2009

dbSNP:

rs1057519723

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

JAK mutations in high-risk childhood acute lymphoblastic leukemia.

19470474

2009

dbSNP:

rs1057519723

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

JAK mutations in high-risk childhood acute lymphoblastic leukemia.

19470474

2009

dbSNP:

rs1057519753

JAK1

0.700

GeneticVariation

CLINVAR

JAK mutations in high-risk childhood acute lymphoblastic leukemia.

19470474

2009

dbSNP:

rs1057519753

JAK1

0.700

GeneticVariation

CLINVAR

Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.

19838194

2009

dbSNP:

rs1057519743

CRLF2

0.700

CausalMutation

CLINVAR

Activating mutation in the TSLPR gene in B-cell precursor lymphoblastic leukemia.

19907440

2010

dbSNP:

rs1057519743

CRLF2

0.700

CausalMutation

CLINVAR

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group.

19965641

2010

dbSNP:

rs1057519743

CRLF2

0.700

CausalMutation

CLINVAR

Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia.

20018760

2010

dbSNP:

rs869312953

JAK1

0.700

GeneticVariation

CLINVAR

ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon.

20167706

2010

dbSNP:

rs1057519753

JAK1

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

dbSNP:

rs1057519721

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.

22368270

2012

dbSNP:

rs1057519722

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.

22368270

2012

dbSNP:

rs1057519723

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.

22368270

2012

dbSNP:

rs1057519723

JAK2 ; INSL6

0.700

CausalMutation

CLINVAR

Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.

22368270

2012

dbSNP:

rs1057519743

CRLF2

0.700

CausalMutation

CLINVAR

Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study.

22368272

2012

dbSNP: