Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5920
Gene Symbol: PLAAT4
PLAAT4
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 GeneticVariation 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: 3456
Gene Symbol: IFNB1
IFNB1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 Biomarker BEFREE Moreover, we found that rG66A virus induced a greater type I interferon (IFN) response than that by pSA14, and JEV NS1' significantly inhibited the production of IFN-β and IFN-stimulated genes. 30542978

2018

Entrez Id: 6035
Gene Symbol: RNASE1
RNASE1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 Biomarker BEFREE To further investigate this phenomenon, we performed comparative proteomics analyses to profile host proteins in chicken embryo fibroblasts (CEFs) infected with rNS1-wt and rNS1-SD30 viruses. 29492200

2018

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 GeneticVariation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 GeneticVariation 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
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 GeneticVariation 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: 3600
Gene Symbol: IL15
IL15
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 Biomarker BEFREE In oncolysis sensitive melanoma cells, delNS1-IL-15 (but not delNS1) infection resulted in the production of IL-15 levels ranging from 70 to 1140 pg/mL in the cell culture supernatants. 22563505

2012

Entrez Id: 5609
Gene Symbol: MAP2K7
MAP2K7
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.010 Biomarker BEFREE Interference with MEK/ERK signalling by RNAi-mediated depletion or the MEK inhibitor U0126 did not affect the oncolytic effects of the delNS1 viruses. 22563505

2012

Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.100 GeneticVariation CLINVAR Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 26173643

2015

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: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.300 Biomarker CTD_human Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid. 22845314

2012

Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.300 Biomarker CTD_human Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.300 Biomarker CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371

2007

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.300 Biomarker CTD_human Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.300 Biomarker CTD_human Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. 17468812

2007

Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.300 Biomarker CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371

2007

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.300 Biomarker CTD_human Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.400 Biomarker CTD_human A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803

2010

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.400 Biomarker CTD_human Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.400 Biomarker CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371

2007

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.400 Biomarker CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371

2007

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.400 Biomarker CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371

2007

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.400 Biomarker CTD_human Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007