Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
FOCAL CORTICAL DYSPLASIA OF TAYLOR
|
0.800 | CausalMutation | CLINVAR | ||||||||
Hyperextensibility at elbow
|
0.700 | CausalMutation | CLINVAR | ||||||||
Myopia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cortical visual impairment
|
0.700 | CausalMutation | CLINVAR | ||||||||
Wide spaced nipples
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hypopigmentation disorder
|
0.700 | CausalMutation | CLINVAR | ||||||||
Optic Disk Drusen
|
0.700 | CausalMutation | CLINVAR | ||||||||
EEG with generalized slow activity
|
0.700 | CausalMutation | CLINVAR | ||||||||
Absent speech
|
0.700 | CausalMutation | CLINVAR | ||||||||
Macular hypopigmented whorls, streaks, and patches
|
0.700 | CausalMutation | CLINVAR | ||||||||
Profound global developmental delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
MEGALENCEPHALY, AUTOSOMAL DOMINANT
|
0.700 | CausalMutation | CLINVAR | ||||||||
Tonic - clonic seizures
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hydrocephalus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Seizures
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hyperextensibility at wrists
|
0.700 | CausalMutation | CLINVAR | ||||||||
Prominent forehead
|
0.700 | CausalMutation | CLINVAR | ||||||||
Irritation - emotion
|
0.700 | CausalMutation | CLINVAR | ||||||||
Alternating Exotropia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Ectopic Tissue
|
0.700 | CausalMutation | CLINVAR | ||||||||
Acid reflux
|
0.700 | CausalMutation | CLINVAR | ||||||||
No social interaction
|
0.700 | CausalMutation | CLINVAR | ||||||||
Salaam Seizures
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hyperpigmented/hypopigmented macules
|
0.700 | CausalMutation | CLINVAR | ||||||||
Long narrow head
|
0.700 | CausalMutation | CLINVAR |