Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.310 GeneticVariation disease BEFREE None of these patients had ATP13A2 sequence variants likely to be causal for their disease, suggesting that mutations in this gene are not common causes of Kufs disease. 21362476 2011
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.310 Biomarker disease CTD_human A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. 22022275 2011
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.310 Biomarker disease CTD_human Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants. 22847264 2012
Entrez Id: 1182
Gene Symbol: CLCN3
CLCN3 		0.200 Biomarker disease MGD CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. 12059962 2002
Entrez Id: 1182
Gene Symbol: CLCN3
CLCN3 		0.200 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
Entrez Id: 1185
Gene Symbol: CLCN6
CLCN6 		0.200 Biomarker disease MGD Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. 16950870 2006
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease MGD Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. 12374761 2002
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease MGD A knock-in reporter model of Batten disease. 17855597 2007
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease MGD Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla. 20219947 2010
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease MGD A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). 10440905 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease CTD_human
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease MGD Altered gene expression in the eye of a mouse model for batten disease. 15326100 2004
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease MGD Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. 10527801 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.500 Biomarker disease MGD Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. 27101989 2016
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.200 Biomarker disease MGD A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. 15459177 2004
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		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
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.830 Biomarker disease MGD Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. 9600738 1998
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		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
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		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
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		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
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.830 GeneticVariation disease BEFREE We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. 30561534 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.830 Biomarker disease GENOMICS_ENGLAND We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. 30561534 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.830 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 		0.830 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.200 Biomarker disease MGD An early-onset congenic strain of the motor neuron degeneration (mnd) mouse. 10191135 1999