Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.020 Biomarker group BEFREE This raises the possibility that DRP1 might be a therapeutic target for developmental disorders of teeth. 29223396 2018
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.020 GeneticVariation group BEFREE We characterized de novo missense mutations in DENR (p.C37Y and p.P121L) detected in two unrelated human subjects diagnosed with brain developmental disorder to find that each variant impairs the function of DENR in mRNA translation re-initiation and disrupts the migration and terminal branching of cortical neurons in different ways. 27239039 2016