×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Dysmorphic features
0.100
CausalMutation
CLINVAR
Chronic pain in Noonan Syndrome: A previously unreported but common symptom.
26297936
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
26249544
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Dysmorphic features
0.100
CausalMutation
CLINVAR
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
26249544
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Chronic pain in Noonan Syndrome: A previously unreported but common symptom.
26297936
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.
25914815
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
25708222
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia.
25395418
2015
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Pectus excavatum and carinatum.
24821303
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Juvenile myelomonocytic leukaemia and Noonan syndrome.
25097206
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Behavioral profile in RASopathies.
24458522
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
GeneticVariation
CLINVAR
The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).
24931631
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition.
25253770
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
GeneticVariation
CLINVAR
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.
24150203
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
GeneticVariation
CLINVAR
Juvenile myelomonocytic leukaemia and Noonan syndrome.
25097206
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
GeneticVariation
CLINVAR
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
24451042
2014
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
23321623
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
GeneticVariation
CLINVAR
Clinical and biological implications of driver mutations in myelodysplastic syndromes.
24030381
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
23756559
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Atrioventricular canal defect in patients with RASopathies.
22781091
2013
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Congenital stenosis of pulmonary valve
0.100
CausalMutation
CLINVAR
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
22711529
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Congenital insufficiency of pulmonary valve
0.100
CausalMutation
CLINVAR
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
22711529
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Narrow forehead
0.100
CausalMutation
CLINVAR
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
22711529
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
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
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
22465605
2012
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
NOONAN SYNDROME 3
0.100
CausalMutation
CLINVAR
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.
22488759
2012