DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Variant: rs397507531 ×

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:

rs397507531

PTPN11

0.700

CausalMutation

CLINVAR

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

19120036

2009

dbSNP:

rs397507531

PTPN11

0.700

CausalMutation

CLINVAR

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

17339163

2007

dbSNP:

rs397507531

PTPN11

0.700

CausalMutation

CLINVAR

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

15689434

2005

dbSNP:

rs397507531

PTPN11

0.700

CausalMutation

CLINVAR

Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

15996221

2005

dbSNP:

rs397507531

PTPN11

0.700

CausalMutation

CLINVAR

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

11992261

2002