Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.210 Biomarker disease MGD Autosomal dominance in a late-onset motor neuron disease in the mouse. 3783318 1986
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.210 Biomarker disease MGD Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.210 Biomarker disease MGD Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). 7683855 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.210 Biomarker disease MGD An early-onset congenic strain of the motor neuron degeneration (mnd) mouse. 10191135 1999
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.210 Biomarker disease MGD Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). 1639406 1992
Entrez Id: 1509
Gene Symbol: CTSD
CTSD 		0.210 Biomarker disease MGD Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells. 7641679 1995
Entrez Id: 1509
Gene Symbol: CTSD
CTSD 		0.210 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 		0.210 Biomarker disease MGD Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation. 9539769 1998
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.210 Biomarker disease MGD Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. 24423645 2014
Entrez Id: 1509
Gene Symbol: CTSD
CTSD 		0.210 Biomarker disease MGD Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. 11567042 2001
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: 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 		1.000 Biomarker disease CTD_human
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.600 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.600 Biomarker disease CTD_human Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. 11589009 2001
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: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.300 Biomarker disease CTD_human Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants. 22847264 2012
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.300 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: 1201
Gene Symbol: CLN3
CLN3 		1.000 GeneticVariation disease CLINVAR Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. 9932957 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		1.000 GeneticVariation disease CLINVAR 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: 1201
Gene Symbol: CLN3
CLN3 		1.000 GeneticVariation disease CLINVAR A yeast model for the study of Batten disease. 9618513 1998
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		1.000 CausalMutation disease CLINVAR A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. 17947292 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		1.000 GeneticVariation disease CLINVAR The Batten disease gene, CLN3, was recently isolated, and four disease-causing mutations were identified, including a 1.02-kb deletion that is present in the majority of patients (The International Batten Disease Consortium 1995). 9311735 1997