Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
0.010 GeneticVariation disease BEFREE Its association with microlissencephaly is exceedingly rare and to date, only a heterozygous de novo missense variant in ADGRL2, a gene encoding Adhesion G-Protein-Coupled Receptor L2, has been identified. 31770597 2019