| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome
|
0.720 | GeneticVariation | BEFREE | Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively. | 24891296 | 2014 | |||||
Noonan Syndrome
|
0.720 | GeneticVariation | BEFREE | The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. | 30541462 | 2018 | |||||
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome
|
0.720 | CausalMutation | CLINVAR | Genotype-phenotype correlations in Noonan syndrome. | 15001945 | 2004 | |||||
Noonan Syndrome
|
0.720 | CausalMutation | CLINVAR | Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. | 14982869 | 2004 | |||||
Noonan Syndrome
|
0.720 | CausalMutation | CLINVAR | PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. | 17020470 | 2006 | |||||
Noonan Syndrome
|
0.720 | CausalMutation | CLINVAR | Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | 16358218 | 2006 | |||||
Noonan Syndrome
|
0.720 | 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 | |||||
Noonan Syndrome
|
0.720 | CausalMutation | CLINVAR | PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. | 15985475 | 2005 | |||||
Multiple lentigines
|
0.700 | CausalMutation | CLINVAR | ||||||||
Postnatal growth retardation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Orbital separation excessive
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hearing Loss
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hearing Loss
|
0.700 | CausalMutation | CLINVAR | ||||||||
Orbital separation excessive
|
0.700 | CausalMutation | CLINVAR | ||||||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | ||||||||
Low set ears
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. | 28074573 | 2017 | |||||
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
|
0.800 | GeneticVariation | UNIPROT | PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. | 12529711 | 2003 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 | |||||
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
|
0.800 | GeneticVariation | UNIPROT | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 |