Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 CausalMutation disease CLINVAR
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. 9733028 1998
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 Biomarker disease MGD By crossing nclf/nclf mice with CAST/Ei mice, linkage analysis of nclf with respect to SSLP markers was performed, showing that nclf is located on Chromosome 9 between D9Mit164 and D9Mit165, in a region that is homologous with human Ch 15q21, where the gene for one variant of late infantile NCL, CLN6, recently has been mapped. 9600738 1998
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE A survey of fibroblasts and lymphoblasts demonstrated that lack of activity was associated with LINCL arising from mutations in the CLN2 gene but not other neuronal ceroid lipofuscinoses (NCLs), including the CLN6 variant LINCL, classical infantile NCL, classical juvenile NCL, and adult NCL (Kufs' disease). 10428067 1999
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE The CLN2 and CLN6 loci have also been excluded in a family with protracted juvenile NCL. 10191126 1999
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 11791207 2002
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease LHGDN The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. 11727201 2002
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease LHGDN Unlike NCLs caused by mutations in CLN1, CLN3, CLN5, and CLN8, there is no major founder mutation in CLN6. 12815591 2003
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis type 6 and its sheep model (OCL6) are lysosomal storage disorders caused by mutations in the CLN6 gene product of unknown function. 12946273 2003
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 Biomarker disease BEFREE Genetic variants such as CLN6 might therefore cause a significant portion of childhood NCL in the Portuguese population. 12796825 2003
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease LHGDN Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. 15996215 2005
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. 18811591 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 Biomarker disease BEFREE To further understand the significance and possible contribution to vLINCL of the CLN6-CRMP-2 interaction, we utilized the nclf mouse, which harbors mutations in CLN6. 19235893 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease LHGDN Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. 19135028 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE The affected gene is CLN6, previously known to underlie variant late-infantile and adult-onset neuronal ceroid lipofuscinoses. 22883287 2012
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 Biomarker disease CTD_human Purkinje cells not only control motor function, an early symptomatic change in the CLN6 mice, but also display prominent neuropathological changes in mouse models and patients with different forms of neuronal ceroid lipofuscinoses. 23789114 2013
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE This study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of NCL and further highlights the key contribution of deregulated biometal trafficking to the pathology of neurodegenerative diseases. 24581221 2014
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. 26115733 2015
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene. 28587997 2017
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not been described in China to date. 30285654 2018
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Among them, a 12.4-kb deletion involving the CLN6 gene was the top candidate because its homozygous abnormalities cause neuronal ceroid lipofuscinosis. 30760880 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. 30561534 2019