CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		0.010 GeneticVariation disease BEFREE We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells. 20052765 2010