Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GermlineCausalMutation disease ORPHANET These findings indicate that duplications of PTPN11 represent an uncommon cause of NS, and functionally relevant variations within the 3'UTR of the gene do not appear to play a major role in NS. 19760651 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously. 15240615 2004
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR The study design was to conduct a retrospective analysis of 3 yr of hGH treatment and genotyping of PTPN11 in patients with NS. 15956085 2005
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR High incidence of malformation syndromes in a series of 1,073 children with cancer. 15712196 2005
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia. 23584145 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR The natural history of Noonan syndrome: a long-term follow-up study. 16990350 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. 19251646 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Half the individuals with Noonan syndrome carry a heterozygous mutation of the nonreceptor-type protein tyrosine phosphatase, Src homology region 2-domain phosphatase-2 (SHP-2), encoded by PTPN11, which has a role in GH receptor signaling. 15985475 2005
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR In addition, these fly models can be used for sensitized screens to identify novel interacting genes as well as for high-throughput screening of therapeutic compounds for NS and PTPN11-related cancers. 16399795 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933 2004
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711 2003
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 16631468 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway. 20030748 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms? 17453145 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246 2010