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 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: 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: 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: 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: 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: 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: 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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923

2011
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 CausalMutation CLINVAR SHP-2 and myeloid malignancies. 14676626

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR The role of Shp2 (PTPN11) in cancer. 17227708

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. 18454468

2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328

2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163

2007
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 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.910 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006