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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 Biomarker GENOMICS_ENGLAND

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 GeneticVariation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.640 Biomarker CLINGEN

Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.350 Biomarker CLINGEN

Entrez Id: 317
Gene Symbol: APAF1
APAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.200 Biomarker MGD

Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.200 Biomarker MGD

Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.200 Biomarker MGD

Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.200 Biomarker MGD

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR [Observations on cancer metastasis from an unknown primary location]. 1758637

1991
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Downgrading of arts-centered education in state schools. 1760348

1992
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Probing the role of loop 2 in Ras function with unnatural amino acids. 8234268

1993
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction. 8246952

1993
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.350 GeneticVariation 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 GeneticVariation 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.780 CausalMutation CLINVAR Juvenile myelomonocytic leukemia and Noonan syndrome. 10598665

2000
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker CLINGEN Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. 10938118

2000
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.620 Biomarker GENOMICS_ENGLAND Ras-guanine nucleotide exchange factor sos2 is dispensable for mouse growth and development. 10938118

2000
Entrez Id: 6128
Gene Symbol: RPL6
RPL6
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 Biomarker 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 Biomarker 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 AlteredExpression 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation 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