Gene: CLN5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation 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 		0.400 CausalMutation disease CLINVAR Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 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 		0.400 CausalMutation disease CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. 20960652 2008
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 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 		0.400 CausalMutation 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 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. 11971870 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding assays. 12134079 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 GeneticVariation disease LHGDN Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. 12125809 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 AlteredExpression disease LHGDN Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding assays. 12134079 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 GeneticVariation disease LHGDN The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland. 15728307 2005
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 Biomarker disease MGD A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. 15459177 2004