Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Syndactyly
CUI: C0039075
Disease: Syndactyly
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
0.700 CausalMutation CLINVAR
Hemangioma
CUI: C0018916
Disease: Hemangioma
0.700 CausalMutation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 CausalMutation CLINVAR
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
0.700 CausalMutation CLINVAR
Lethargy
CUI: C0023380
Disease: Lethargy
0.700 CausalMutation CLINVAR
Childhood-onset truncal obesity
CUI: C1859846
Disease: Childhood-onset truncal obesity
0.700 CausalMutation CLINVAR
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
0.700 CausalMutation CLINVAR
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
0.700 CausalMutation CLINVAR
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
0.700 CausalMutation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
0.700 CausalMutation CLINVAR
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.700 CausalMutation CLINVAR
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
0.700 CausalMutation CLINVAR
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
0.700 CausalMutation CLINVAR
Abnormal fear/anxiety-related behavior
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Amblyopia
CUI: C0002418
Disease: Amblyopia
0.700 CausalMutation CLINVAR
Constipation
CUI: C0009806
Disease: Constipation
0.700 CausalMutation CLINVAR
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
0.700 CausalMutation CLINVAR