DisGeNET - a database of gene-disease associations

Juvenile Myelomonocytic Leukemia, C0349639

Variant: rs121913529 ×

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:

rs121913529

KRAS

0.820

GeneticVariation

BEFREE

We report on an infant with JMML with somatic KRAS G12A mutation and monosomy 7 who achieved sustained remission following azacitidine monotherapy.

31250550

2019

dbSNP:

rs121913529

KRAS

0.820

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:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways.

21169357

2011

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.

19358724

2009

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.

19358724

2009

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

19047918

2009

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

19047918

2009

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.

17910045

2008

dbSNP:

rs121913529

KRAS

0.820

GeneticVariation

UNIPROT

Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.

17332249

2007

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.

17332249

2007

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

17704260

2007

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.

17332249

2007

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.

15696205

2005

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.

15696205

2005

dbSNP:

rs121913529

KRAS

0.820

CausalMutation

CLINVAR

Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

15842656

2005