DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Juvenile Myelomonocytic Leukemia ×

Variant: rs112445441 ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs112445441

KRAS

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.810

GeneticVariation

BEFREE

Here, we present a case of JMML with a KRAS G13D mutation.

24766281

2015

dbSNP:

rs112445441

KRAS

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.810

CausalMutation

CLINVAR

dbSNP:

rs112445441

KRAS

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.810

GeneticVariation

UNIPROT