Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 A knock-in reporter model of Batten disease. 17855597 2007
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.500 Biomarker disease MGD Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. 18343701 2008
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: 5663
Gene Symbol: PSEN1
PSEN1 		0.020 GeneticVariation disease BEFREE The pathogenic M146I mutation in PSEN1, and instrumental findings common to adult neuronal ceroid lipofuscinosis were found in the same patient. 21212640 2011
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: 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 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 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: 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: 5538
Gene Symbol: PPT1
PPT1 		0.200 Biomarker disease MGD The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. 22031903 2011
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5 		0.020 GeneticVariation disease BEFREE Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189 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: 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: 8722
Gene Symbol: CTSF
CTSF 		0.030 GeneticVariation disease BEFREE We subsequently sequenced CTSF in 22 unrelated individuals with suspected recessive Kufs disease, and identified an additional patient with compound heterozygous mutations. 23297359 2013
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: 5663
Gene Symbol: PSEN1
PSEN1 		0.020 GeneticVariation disease BEFREE In silico analysis of mutation p.Leu(381)Phe predicted more detrimental effects when compared to the common Presenilin 1 mutation p.Glu(280)Ala. Electron microscopy study of peripheral fibroblast cells of the proband showed lysosomal inclusions typical for Kufs disease. 24121961 2014
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.200 Biomarker disease MGD Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. 24423645 2014
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.200 Biomarker disease MGD The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 25205113 2015
Entrez Id: 8722
Gene Symbol: CTSF
CTSF 		0.030 Biomarker disease BEFREE Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease. 25576872 2015
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.010 Biomarker disease BEFREE Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease. 25576872 2015
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5 		0.020 AlteredExpression disease BEFREE Both CSPα monomer and oligomer expression are reduced in synaptosomes prepared from ANCL cortex compared with control. 25905915 2015
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: 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: 8722
Gene Symbol: CTSF
CTSF 		0.030 GeneticVariation disease BEFREE Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene. 29120254 2018