Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406 1998
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. 15728307 2005
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 Biomarker disease BEFREE We also reveal that both Dictyostelium Cln5 and human CLN5 are glycoside hydrolases, providing the first evidence in any system linking a molecular function to CLN5. 29128403 2018
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 23160995 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585 2006
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 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
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 Biomarker disease GENOMICS_ENGLAND CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406 1998
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 Biomarker disease CTD_human