| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
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 | Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. | 11704759 | 2001 | |||||
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 | PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. | 12325025 | 2002 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. | 12161469 | 2002 | |||||
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 | Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. | 12739139 | 2003 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | 12717436 | 2003 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. | 12960218 | 2003 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. | 12634870 | 2003 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. | 15384080 | 2004 | |||||
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 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 | Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. | 15948193 | 2005 |