Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		0.100 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		0.100 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		0.100 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 26607044

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Genomic Classification and Prognosis in Acute Myeloid Leukemia. 27276561

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 27683039

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015