Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.780 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.680 GeneticVariation disease CLINVAR
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.640 Biomarker disease CLINGEN
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.350 Biomarker disease CLINGEN
Entrez Id: 317
Gene Symbol: APAF1
APAF1 		0.200 Biomarker disease MGD
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		0.200 Biomarker disease MGD
Entrez Id: 545
Gene Symbol: ATR
ATR 		0.200 Biomarker disease MGD
Entrez Id: 80254
Gene Symbol: CEP63
CEP63 		0.200 Biomarker disease MGD
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 CausalMutation disease CLINVAR [Observations on cancer metastasis from an unknown primary location]. 1758637 1991
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		1.000 GeneticVariation disease CLINVAR Downgrading of arts-centered education in state schools. 1760348 1992
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		1.000 GeneticVariation disease CLINVAR Probing the role of loop 2 in Ras function with unnatural amino acids. 8234268 1993
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		1.000 GeneticVariation disease CLINVAR Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction. 8246952 1993
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.350 GeneticVariation disease BEFREE Here we provide evidence for the former by demonstrating a mutation in the NF1 gene in a family with features of both WS and NS. 8317503 1993
Entrez Id: 7391
Gene Symbol: USF1
USF1 		0.010 GeneticVariation disease BEFREE Between January 2, 1982 and December 31, 1997 through the USF Regional Genetics Program we evaluated 566 propositi with suspected or clinically diagnosed neurofibromatosis (NF1, NF2, segmental NF=NF5, NF/Noonan syndrome, familial café-au-lait macules, and solitary neurofibroma, NF). 10528238 1999
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.780 CausalMutation disease CLINVAR Juvenile myelomonocytic leukemia and Noonan syndrome. 10598665 2000
Entrez Id: 6655
Gene Symbol: SOS2
SOS2 		0.620 Biomarker disease CLINGEN Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. 10938118 2000
Entrez Id: 6655
Gene Symbol: SOS2
SOS2 		0.620 Biomarker disease GENOMICS_ENGLAND Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. 10938118 2000
Entrez Id: 6128
Gene Symbol: RPL6
RPL6 		0.010 Biomarker disease BEFREE RPL6 was mapped to chromosome 12q24.1 between the markers D12S84 and D12S861, which is in the critical region for Noonan syndrome. 11043511 2000
Entrez Id: 1840
Gene Symbol: DTX1
DTX1 		0.010 Biomarker disease BEFREE The DTX1 gene maps to chromosomal region 12q24 in the vicinity of the Noonan syndrome critical region. 11153911 2000
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		1.000 GeneticVariation disease CLINVAR Structure-based mutagenesis reveals distinct functions for Ras switch 1 and switch 2 in Sos-catalyzed guanine nucleotide exchange. 11333268 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 AlteredExpression disease BEFREE This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 Biomarker disease CLINGEN This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 GeneticVariation disease CLINVAR This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity. 11704759 2001