| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome
|
0.710 | GeneticVariation | BEFREE | Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. | 22711529 | 2012 | |||||
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome. | 22711529 | 2012 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. | 17020470 | 2006 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. | 19352411 | 2009 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. | 15928039 | 2005 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. | 12325025 | 2002 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | 12717436 | 2003 | |||||
Noonan Syndrome
|
0.710 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 | |||||
Leopard Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Small scrotum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neck webbing
|
0.700 | CausalMutation | CLINVAR | ||||||||
Central hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the thorax
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the face
|
0.700 | CausalMutation | CLINVAR | ||||||||
Increased tendency to bruise
|
0.700 | CausalMutation | CLINVAR | ||||||||
Heart Diseases
|
0.700 | 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 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. | 19352411 | 2009 | |||||
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 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. | 12325025 | 2002 | |||||
Pleural effusion disorder
|
0.700 | CausalMutation | CLINVAR | ||||||||
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
|
0.700 | CausalMutation | CLINVAR | A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. | 29555671 | 2018 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. | 15928039 | 2005 |