DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Variant: rs397507547 ×

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:

rs397507547

PTPN11

0.700

CausalMutation

CLINVAR

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

19020799

2008

dbSNP:

rs397507547

PTPN11

0.700

CausalMutation

CLINVAR

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

18331608

2008

dbSNP:

rs397507547

PTPN11

0.700

CausalMutation

CLINVAR

Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.

17661820

2007

dbSNP:

rs397507547

PTPN11

0.700

CausalMutation

CLINVAR

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

17339163

2007

dbSNP:

rs397507547

PTPN11

0.700

CausalMutation

CLINVAR

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

17020470

2006

dbSNP:

rs397507547

PTPN11

0.700

CausalMutation

CLINVAR

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

15834506

2005

dbSNP:

rs397507547

PTPN11

0.700

CausalMutation

CLINVAR

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

11992261

2002