Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease BEFREE We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1) from 12 families and their relevant family members for mutations in PTPN11/SHP2 using direct DNA sequencing. 12325025 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. 12739139 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1) from 12 families and their relevant family members for mutations in PTPN11/SHP2 using direct DNA sequencing. 12325025 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. 15384080 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease UNIPROT PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 6655
Gene Symbol: SOS2
SOS2 		0.100 GeneticVariation disease CLINVAR Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643 2015
Entrez Id: 7124
Gene Symbol: TNF
TNF 		0.010 GeneticVariation disease BEFREE Only weak or nonspecific binding of NS1-nuc to the segments of the TNFα and IL-6 promoters was found. 27809499 2016
Entrez Id: 3569
Gene Symbol: IL6
IL6 		0.010 GeneticVariation disease BEFREE Only weak or nonspecific binding of NS1-nuc to the segments of the TNFα and IL-6 promoters was found. 27809499 2016
Entrez Id: 3455
Gene Symbol: IFNAR2
IFNAR2 		0.010 GeneticVariation disease BEFREE Likewise, replication of G45R/NS1 virus was increased in comparison to wild type virus in both wild type and type I interferon receptor null Let1 cells. 27405392 2016
Entrez Id: 5920
Gene Symbol: PLAAT4
PLAAT4 		0.010 GeneticVariation disease BEFREE We also observed that wild-type NS1 is capable of binding directly to the tandem RIG-I CARDs while the R21Q mutation in NS1 significantly inhibits this interaction. 31843969 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013