| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital ocular coloboma (disorder)
|
0.700 | CausalMutation | CLINVAR | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 | |||||
Congenital ocular coloboma (disorder)
|
0.700 | CausalMutation | CLINVAR | Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. | 15834506 | 2005 | |||||
Curly hair (finding)
|
0.700 | CausalMutation | CLINVAR | Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. | 15834506 | 2005 | |||||
Curly hair (finding)
|
0.700 | CausalMutation | CLINVAR | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 | |||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. | 19206169 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Multiple lentigines syndrome. Case report and review of the literature. | 1258892 | 1976 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. | 21500339 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Audiological findings in Noonan syndrome. | 27619028 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A clinical study of Noonan syndrome. | 1543375 | 1992 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome. | 17222357 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. | 27521173 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. | 21533187 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | 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 | CausalMutation | CLINVAR | Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | 12960218 | 2003 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. | 19467855 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome: the changing phenotype. | 4025385 | 1985 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome and clinically related disorders. | 21396583 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). | 9222968 | 1997 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Chronic pain in Noonan Syndrome: A previously unreported but common symptom. | 26297936 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. | 17056636 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. | 8530013 | 1995 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | LEOPARD syndrome: clinical diagnosis in the first year of life. | 16523510 | 2006 |