Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Adult Neuronal Ceroid Lipofuscinosis
0.830 GeneticVariation disease BEFREE We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. 30561534 2019
Adult Neuronal Ceroid Lipofuscinosis
0.830 Biomarker disease GENOMICS_ENGLAND We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. 30561534 2019
Adult Neuronal Ceroid Lipofuscinosis
0.830 Biomarker disease GENOMICS_ENGLAND We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. 30561534 2019
Adult Neuronal Ceroid Lipofuscinosis
0.830 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Adult Neuronal Ceroid Lipofuscinosis
0.830 GeneticVariation disease BEFREE Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with dementia and motor features (Type B) is unknown. 23297359 2013
Adult Neuronal Ceroid Lipofuscinosis
0.830 Biomarker disease CTD_human Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis. 23789114 2013
Adult Neuronal Ceroid Lipofuscinosis
0.830 GermlineCausalMutation disease ORPHANET Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Adult Neuronal Ceroid Lipofuscinosis
0.830 GeneticVariation disease BEFREE Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease. 21549341 2011
Adult Neuronal Ceroid Lipofuscinosis
0.830 GeneticVariation disease UNIPROT Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease. 21549341 2011
Adult Neuronal Ceroid Lipofuscinosis
0.830 Biomarker disease MGD Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. 9600738 1998