DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Juvenile Myelomonocytic Leukemia ×

Gene: NF1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

1.000

SomaticCausalMutation

ORPHANET

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

23832011

2013

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

1.000

SomaticCausalMutation

ORPHANET

Molecular basis of juvenile myelomonocytic leukemia.

20139388

2010

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

1.000

SomaticCausalMutation

ORPHANET

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

19571318

2009