CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66
Disease: Progressive brain disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease 		0.010 GeneticVariation disease BEFREE The variant form of late infantile neuronal ceroid lipofuscinosis (vLINCL, locus definition CLN5) represents a progressive brain disease with autosomal recessive inheritance. 8661106 1996