DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Variant: rs267606990 ×

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:

rs267606990

PTPN11 ; RPL6

0.700

CausalMutation

CLINVAR

Clinical and Molecular Findings of Tunisian Patients with RASopathies.

25337068

2014

dbSNP:

rs267606990

PTPN11 ; RPL6

0.700

CausalMutation

CLINVAR

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

19449407

2009

dbSNP:

rs267606990

PTPN11 ; RPL6

0.700

CausalMutation

CLINVAR

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

16358218

2006

dbSNP:

rs267606990

PTPN11 ; RPL6

0.700

CausalMutation

CLINVAR

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

12960218

2003