DisGeNET - a database of gene-disease associations

Juvenile Myelomonocytic Leukemia, C0349639

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:

rs397507510

PTPN11

0.810

GeneticVariation

UNIPROT

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

dbSNP:

rs397507510

PTPN11

0.810

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918453

PTPN11

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918453

PTPN11

0.800

GeneticVariation

UNIPROT

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

dbSNP:

rs121918453

PTPN11

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs121918454

PTPN11

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs121918454

PTPN11

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918454

PTPN11

0.800

GeneticVariation

UNIPROT

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

dbSNP:

rs121918461

PTPN11

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918461

PTPN11

0.800

GeneticVariation

UNIPROT

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

dbSNP:

rs121918461

PTPN11

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs121918465

PTPN11

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs121918465

PTPN11

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918465

PTPN11

0.800

GeneticVariation

UNIPROT

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

dbSNP:

rs121918546

ARHGAP26

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs397507511

PTPN11

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs397507511

PTPN11

0.800

GeneticVariation

UNIPROT

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

dbSNP:

rs397507545

PTPN11

0.800

GeneticVariation

UNIPROT

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

dbSNP:

rs397507545

PTPN11

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs397507545

PTPN11

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs121918462

PTPN11

0.730

GeneticVariation

BEFREE

A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.

15539800

2004

dbSNP:

rs121918462

PTPN11

0.730

GeneticVariation

BEFREE

Patients with a p.Thr73Ile mutation also had more chances of developing MPD/JMML but with a milder clinical course.

25097206

2014

dbSNP:

rs121918462

PTPN11

0.730

GeneticVariation

BEFREE

In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found.

15723289

2005

dbSNP:

rs121913250

NRAS

0.710

GeneticVariation

BEFREE

In the present study, we report 2 patients with somatic mosaicism for oncogenic NRAS mutations (G12D and G12S) associated with the development of JMML.

22753870

2012

dbSNP:

rs387906666

CBL

0.710

GeneticVariation

BEFREE

The penetrance of the CBL Y371C mutation was 30% for JMML and 40% for all leukemia.

25939664

2015