Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker GENOMICS_ENGLAND

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 GeneticVariation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 GeneticVariation CLINVAR

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation CLINVAR

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 CausalMutation CLINVAR

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 CausalMutation CLINVAR

Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.100 CausalMutation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation UNIPROT Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker GENOMICS_ENGLAND Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation UNIPROT PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 Biomarker GENOMICS_ENGLAND PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation UNIPROT Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 GeneticVariation UNIPROT Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. 12739139

2003