Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100

2017
dbSNP: rs397507545
rs397507545
PTPN11
0.800 GeneticVariation UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426

2016
dbSNP: rs397507545
rs397507545
PTPN11
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR [Clinical and molecular study of the Noonan syndrome]. 23513489

2012
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. 18758896

2008
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943

2008
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs397507545
rs397507545
PTPN11
0.800 GeneticVariation UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507545
rs397507545
PTPN11
C 0.800 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507545
rs397507545
PTPN11
A 0.800 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003