Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017