Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker GENOMICS_ENGLAND A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773

2019