Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.240 GeneticVariation disease BEFREE Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. 26443629 2016
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.240 GeneticVariation disease BEFREE Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 19807737 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.240 Biomarker disease BEFREE CLN5 genetic testing is warranted in a wider population with clinical and pathologic features suggestive of an NCL disorder. 20157158 2010
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.240 GeneticVariation disease BEFREE Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 16570191 2006
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.240 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: 2055
Gene Symbol: CLN8
CLN8 		0.240 GeneticVariation disease BEFREE Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. 11589000 2001
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.240 Biomarker disease MGD An early-onset congenic strain of the motor neuron degeneration (mnd) mouse. 10191135 1999
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.240 GeneticVariation disease BEFREE Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5). 10419622 1999
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.240 GeneticVariation disease BEFREE CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406 1998
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.240 GeneticVariation disease BEFREE The genomic defect causing a variant late infantile neuronal ceroid-lipofuscinosis (vLINCL, also called CLN-5 or variant Jansky-Bielschowsky disease) has recently been localized to chromosome 13q22, thus delineating this disease as a separate entity. 9100667 1997
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.240 Biomarker disease MGD Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.240 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 		0.240 Biomarker disease MGD Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). 1639406 1992
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.240 Biomarker disease MGD Autosomal dominance in a late-onset motor neuron disease in the mouse. 3783318 1986
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: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 GeneticVariation disease BEFREE Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. 25439737 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 Biomarker disease MGD Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. 24423645 2014
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 GeneticVariation disease BEFREE Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 20826447 2010
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 Biomarker disease BEFREE CLN7 is a polytopic lysosomal membrane protein deficient in variant late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 20406422 2010
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 GeneticVariation disease BEFREE A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 GeneticVariation disease BEFREE Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 GeneticVariation disease BEFREE Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 GeneticVariation disease BEFREE A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. 10191125 1999
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.370 CausalMutation disease CLINVAR