Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 GeneticVariation disease BEFREE This study supports a role for CLN6 in lysosomal homeostasis, and highlights the importance of considering CLN6 mutations in the diagnosis of Batten Disease even in patients with normal vision. 30528883 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease BEFREE A single intracerebroventricular (i.c.v.) injection at post-natal day 1 in Cln6 mutant mice delivered scAAV9.CB.CLN6 directly into the CSF, and it prevented or drastically reduced all of the pathological hallmarks of Batten disease. 31331814 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease BEFREE In this study, we investigate whether sex differences in a mouse model of CLN6-Batten disease impact disease onset and progression. 30665444 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease BEFREE Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. 31807779 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease BEFREE Prevention of Photoreceptor Cell Loss in a Cln6<sup>nclf</sup> Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells. 29606505 2018
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease BEFREE Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics. 28065762 2017
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease BEFREE We exemplify several existing naturally occurring ovine variants in genes that are orthologous to human disease genes, such as the Cln6 sheep model for Batten disease. 26329332 2015
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease CTD_human Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis. 23789114 2013
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 GeneticVariation disease BEFREE Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of mitochondrial ATP synthase subunit c, but the unrelated CLN6 and CLN3 genes may initiate disease via similar or distinct cellular processes. 21359198 2011
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.580 Biomarker disease MGD Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. 9600738 1998