Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Pediatric failure to thrive
|
0.700 | CausalMutation | CLINVAR | ||||||||
Osteopenia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Contracture of joint of thumb
|
0.700 | CausalMutation | CLINVAR | ||||||||
Breech Presentation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Smooth philtrum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Anteverted nostril
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gross motor development delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Aneurysm of aortic root
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hypertensive disease
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thick upper lip vermilion
|
0.700 | CausalMutation | CLINVAR | ||||||||
Leukocytosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of the ribs
|
0.700 | CausalMutation | CLINVAR | ||||||||
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormal pigmentation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Flexion contracture - elbow
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of skin morphology
|
0.700 | CausalMutation | CLINVAR | ||||||||
Long palpebral fissure
|
0.700 | CausalMutation | CLINVAR | ||||||||
Weight less than 3rd percentile
|
0.700 | CausalMutation | CLINVAR | ||||||||
Delayed speech and language development
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hyalinosis, Systemic
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thrombocytosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Generalized bone demineralization
|
0.700 | CausalMutation | CLINVAR | ||||||||
Short stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gingival Overgrowth
|
0.700 | CausalMutation | CLINVAR | ||||||||
Depressed nasal bridge
|
0.700 | CausalMutation | CLINVAR |