Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 A knock-in reporter model of Batten disease. 17855597 2007
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: 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: 1200
Gene Symbol: TPP1
TPP1 		0.500 Biomarker disease MGD A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. 15483130 2004
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: 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: 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: 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: 1200
Gene Symbol: TPP1
TPP1 		0.500 Biomarker disease CTD_human Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. 11589009 2001
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
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: 2055
Gene Symbol: CLN8
CLN8 		0.200 Biomarker disease MGD Autosomal dominance in a late-onset motor neuron disease in the mouse. 3783318 1986
Entrez Id: 4691
Gene Symbol: NCL
NCL 		0.010 GeneticVariation disease BEFREE Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. 14655761 2003
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: 1509
Gene Symbol: CTSD
CTSD 		0.200 Biomarker disease MGD Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. 10995834 2000
Entrez Id: 1509
Gene Symbol: CTSD
CTSD 		0.200 Biomarker disease MGD Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. 9539769 1998
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 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
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: 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: 5538
Gene Symbol: PPT1
PPT1 		0.200 Biomarker disease MGD Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. 11717424 2001
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: 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: 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