Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Poor speech
CUI: C1848207
Disease: Poor speech
0.700 CausalMutation CLINVAR
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
0.700 CausalMutation CLINVAR