Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Hyperextensible skin
|
0.700 | CausalMutation | CLINVAR | ||||||||
Deep plantar creases
|
0.700 | CausalMutation | CLINVAR | ||||||||
Orbital separation excessive
|
0.700 | CausalMutation | CLINVAR | ||||||||
High, narrow palate
|
0.700 | CausalMutation | CLINVAR | ||||||||
Underdeveloped supraorbital ridges
|
0.700 | CausalMutation | CLINVAR | ||||||||
Papule
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neck webbing
|
0.700 | CausalMutation | CLINVAR | ||||||||
High forehead
|
0.700 | CausalMutation | CLINVAR | ||||||||
Downward slant of palpebral fissure
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pulmonary Stenosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Malocclusion
|
0.700 | CausalMutation | CLINVAR | ||||||||
Sparse eyelashes
|
0.700 | CausalMutation | CLINVAR | ||||||||
Feeding difficulties in infancy
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cutis marmorata
|
0.700 | CausalMutation | CLINVAR | ||||||||
Range of joint movement increased
|
0.700 | CausalMutation | CLINVAR | ||||||||
Motor delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Broad philtrum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Deep palmar crease
|
0.700 | CausalMutation | CLINVAR | ||||||||
Coarse hair
|
0.700 | CausalMutation | CLINVAR | ||||||||
Triangular face
|
0.700 | CausalMutation | CLINVAR | ||||||||
Sparse and thin eyebrow
|
0.700 | CausalMutation | CLINVAR | ||||||||
Posteriorly rotated ear
|
0.700 | CausalMutation | CLINVAR | ||||||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. | 28074573 | 2017 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). | 25173338 | 2014 | |||||
Noonan Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. | 24891296 | 2014 |