DisGeNET - a database of gene-disease associations

Juvenile Myelomonocytic Leukemia, C0349639

Variant: rs121918462 ×

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:

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:

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

CausalMutation

CLINVAR