Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Breathing dysregulation
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Byzanthine arch palate
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Thin lips
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Drooling
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Scoliosis, unspecified
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Malocclusion
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Global developmental delay
|
0.700 | GeneticVariation | CLINVAR | ||||||||
EEG with photoparoxysmal response
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hyporeflexia of upper limbs
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Seizures
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hand clenching
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Slowed horizontal saccades
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hip Dysplasia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Deglutition Disorders
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Muscular hypotonia of the trunk
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Cortical visual impairment
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Facial hypotonia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
No social interaction
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Infantile Spasm
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Tonic - clonic seizures
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Photophobia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Optic Atrophy
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Choreoathetosis
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hyporeflexia of lower limbs
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Abnormality of dental enamel
|
0.700 | GeneticVariation | CLINVAR |