Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Audiological findings in Noonan syndrome.
|
27619028 |
2016 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Audiological findings in Noonan syndrome.
|
27619028 |
2016 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
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
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Chronic pain in Noonan Syndrome: A previously unreported but common symptom.
|
26297936 |
2015 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
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
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Chronic pain in Noonan Syndrome: A previously unreported but common symptom.
|
26297936 |
2015 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
|
21533187 |
2011 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.
|
21500339 |
2011 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.
|
21500339 |
2011 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
|
21533187 |
2011 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
|
19467855 |
2009 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
|
19467855 |
2009 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Noonan syndrome.
|
17222357 |
2007 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Noonan syndrome.
|
17222357 |
2007 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
17056636 |
2007 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
17056636 |
2007 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
LEOPARD syndrome: clinical diagnosis in the first year of life.
|
16523510 |
2006 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
LEOPARD syndrome: clinical diagnosis in the first year of life.
|
16523510 |
2006 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
|
12960218 |
2003 |