DisGeNET - a database of gene-disease associations

NOONAN SYNDROME 3, C1860991

Variant: rs121918468 ×

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:

rs121918468

PTPN11

0.700

CausalMutation

CLINVAR

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

23321623

2013

dbSNP:

rs121918468

PTPN11

0.700

CausalMutation

CLINVAR

Atrioventricular canal defect in patients with RASopathies.

22781091

2013

dbSNP:

rs121918468

PTPN11

0.700

CausalMutation

CLINVAR

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

21784453

2011

dbSNP:

rs121918468

PTPN11

0.700

CausalMutation

CLINVAR

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

16377799

2006

dbSNP:

rs121918468

PTPN11

0.700

CausalMutation

CLINVAR

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

15389709

2004