rs121918460, PTPN11

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 CausalMutation CLINVAR
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.700 CausalMutation CLINVAR
Small scrotum
CUI: C0455792
Disease: Small scrotum
0.700 CausalMutation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 CausalMutation CLINVAR
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
0.700 CausalMutation CLINVAR
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
0.700 CausalMutation CLINVAR
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
0.700 CausalMutation CLINVAR
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
0.700 CausalMutation CLINVAR
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
0.700 CausalMutation CLINVAR
Choroid plexus cyst
CUI: C0338597
Disease: Choroid plexus cyst
0.700 CausalMutation CLINVAR
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
0.700 CausalMutation CLINVAR
Pterygium
CUI: C0033999
Disease: Pterygium
0.700 CausalMutation CLINVAR
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Broad neck
CUI: C1853638
Disease: Broad neck
0.700 CausalMutation CLINVAR
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018
Right Ventricular Hypertrophy
CUI: C0162770
Disease: Right Ventricular Hypertrophy
0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018
Ostium secundum atrial septal defect
CUI: C0344724
Disease: Ostium secundum atrial septal defect
0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018