| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome 1
|
0.800 | GeneticVariation | CLINVAR | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | 31064749 | 2019 | |||||
Noonan Syndrome 1
|
0.800 | 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 | |||||
Multiple nevi
|
0.700 | CausalMutation | CLINVAR | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 | |||||
Hearing Loss
|
0.700 | CausalMutation | CLINVAR | ||||||||
Leopard Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A clinical study of Noonan syndrome. | 1543375 | 1992 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Noonan syndrome. | 17222357 | 2007 | |||||
Curly hair (finding)
|
0.700 | CausalMutation | CLINVAR | Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. | 15834506 | 2005 | |||||
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 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. | 15834506 | 2005 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. | 19020799 | 2008 | |||||
Multiple lentigines
|
0.700 | CausalMutation | CLINVAR | ||||||||
Orbital separation excessive
|
0.700 | CausalMutation | CLINVAR | ||||||||
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 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. | 17339163 | 2007 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. | 17661820 | 2007 | |||||
Noonan Syndrome
|
0.700 | CausalMutation | CLINVAR | Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. | 18331608 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. | 4386970 | 1968 |