DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Variant: rs397507510 ×

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

0.700

CausalMutation

CLINVAR

Juvenile myelomonocytic leukaemia and Noonan syndrome.

25097206

2014

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

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

23832011

2013

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

16358218

2006

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

15928039

2005

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

15842656

2005

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.

14644997

2004

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

11992261

2002