Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 GeneticVariation disease BEFREE Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. 12169332 2002
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 Biomarker disease BEFREE Furthermore this approach was instrumental in the identification or validation of mutations in two lysosomal proteins, CLN5 and sulfamidase, in the adult form of neuronal ceroid lipofuscinosis. 19383612 2009
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE The most heterogeneous subtype of neuronal ceroid lipofuscinosis comprises the late infantile variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes. 22964447 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. 28542837 2017
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 Biomarker disease BEFREE Our work sheds light on the basic properties of CLN5 required to better understand its biological functions and involvement in NCL pathogenesis. 24038957 2013
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 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 Biomarker disease BEFREE Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. 11971870 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE 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 CausalMutation disease CLINVAR Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. 20960652 2008
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 Biomarker disease BEFREE Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. 30264640 2018
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been found to represent different genetic entities, ie, infantile (INCL) or CLN1, late-infantile (LINCL) or CLN2, juvenile (JNCL) or CLN3, and a Finnish variant of LINCL or CLN5. 8969009 1996
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 Biomarker disease BEFREE CLN5 deficiency causes a subtype of NCL, referred to as CLN5 disease. 30655561 2019
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 Biomarker disease BEFREE Ceroid lipofuscinosis neuronal 5 (CLN5) is a member of a family of proteins that are linked to neuronal ceroid lipofuscinosis (NCL). 29128403 2018
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE The lysosomal storage of lipofuscins is the common pathological feature that characterizes the infantile, late-infantile, juvenile (Batten's disease), and Finnish-variant neuronal ceroid lipofuscinosis (INCL, LINCL, JNCL and FNCL), which are due to mutations in the genes CLN1, CLN2, CLN3, and CLN5, respectively. 11085596 2000
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE Mutations in CLN5 cause neuronal ceroid lipofuscinosis (NCL), a currently untreatable neurodegenerative disorder commonly known as Batten disease. 30048658 2018
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 Biomarker disease BEFREE To model NCL in human cells, we generated induced pluripotent stem cells (iPSCs) by reprogramming skin fibroblasts from a patient with CLN5 (ceroid lipofuscinosis, neuronal, 5) disease, the late infantile variant form of NCL. 28468312 2017
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 BEFREE Thus, dogs exhibiting similar NCL-like signs should be screened for this CLN5 nonsense allele regardless of breed. 31101435 2019