Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation disease BEFREE Thus, dogs exhibiting similar NCL-like signs should be screened for this CLN5 nonsense allele regardless of breed. 31101435 2019
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 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 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 One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder. 29514215 2018
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 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 Biomarker disease BEFREE In conclusion, CLN5 deficient mice develop early vision loss that reflects the condition reported in clinical childhood forms of NCLs. 28487519 2017
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE Mutations in the CLN5 gene are responsible for the Finnish variant late-infantile form of NCL (Finnish vLINCL). 28442266 2017
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 Biomarker disease BEFREE Deficiency in CLN5 protein causes neuronal ceroid lipofuscinosis, an inherited neurodegenerative lysosomal storage disorder. 26342652 2015
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 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 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
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 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 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 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 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population. 21447811 2011
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 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 Our study suggests that CLN5 mutations 1) are more common in patients with neuronal ceroid lipofuscinosis (NCL) than previously reported, 2) are found in non-Finnish NCL patients of broad ethnic diversity, and 3) can be identified in NCL patients with disease onset in adult and juvenile epochs. 20157158 2010
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