Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Leopard Syndrome 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Small scrotum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neck webbing
|
0.700 | CausalMutation | CLINVAR | ||||||||
Central hypotonia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the thorax
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the face
|
0.700 | CausalMutation | CLINVAR | ||||||||
Increased tendency to bruise
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pleural effusion disorder
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pulmonary Stenosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Choroid plexus cyst
|
0.700 | CausalMutation | CLINVAR | ||||||||
Blepharoptosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hepatomegaly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pterygium
|
0.700 | CausalMutation | CLINVAR | ||||||||
Metachondromatosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Broad neck
|
0.700 | CausalMutation | CLINVAR | ||||||||
Depressed nasal bridge
|
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
|
0.710 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 | |||||
Heart Diseases
|
0.700 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 2002 | |||||
Juvenile Myelomonocytic Leukemia
|
0.700 | CausalMutation | CLINVAR | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 11992261 | 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 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. | 12325025 | 2002 |