Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
0.110 GeneticVariation disease BEFREE Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing. 27889060 2016
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
0.110 GeneticVariation disease CLINVAR
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
0.110 Biomarker disease HPO