Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. | 27521173 | 2016 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. | 27521173 | 2016 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Audiological findings in Noonan syndrome. | 27619028 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Audiological findings in Noonan syndrome. | 27619028 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Chronic pain in Noonan Syndrome: A previously unreported but common symptom. | 26297936 | 2015 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. | 26249544 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. | 26249544 | 2015 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Chronic pain in Noonan Syndrome: A previously unreported but common symptom. | 26297936 | 2015 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. | 21500339 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. | 21533187 | 2011 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. | 21533187 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. | 21500339 | 2011 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. | 19467855 | 2009 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 | |||||
NOONAN SYNDROME 3
|
0.700 | CausalMutation | CLINVAR | A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. | 19120036 | 2009 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. | 19120036 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. | 19467855 | 2009 | |||||
NOONAN SYNDROME 3
|
0.700 | CausalMutation | CLINVAR | Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. | 18854871 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome. | 17222357 | 2007 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Noonan syndrome. | 17222357 | 2007 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. | 17339163 | 2007 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 |