KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. 30906834 2019