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 Biomarker disease GENOMICS_ENGLAND
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: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.400 CausalMutation disease CLINVAR
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.400 CausalMutation disease CLINVAR
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.400 CausalMutation disease CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.100 CausalMutation disease CLINVAR
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2 		0.100 CausalMutation disease CLINVAR
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 Biomarker disease GENOMICS_ENGLAND Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR 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 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 CausalMutation disease CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 Biomarker disease GENOMICS_ENGLAND 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 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 CausalMutation disease CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
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: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR 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 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 UNIPROT Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. 12739139 2003