RBSN, rabenosyn, RAB effector, 64145

N. diseases: 3; N. variants: 0
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation phenotype BEFREE Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking. 25233840 2014