Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. 22031903 2011
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: 1182
Gene Symbol: CLCN3
CLCN3 		0.200 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.200 Biomarker disease MGD Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. 15649713 2005
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: 1509
Gene Symbol: CTSD
CTSD 		0.200 Biomarker disease MGD Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice. 12676526 2003
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: 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: 1509
Gene Symbol: CTSD
CTSD 		0.200 Biomarker disease MGD Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. 11567042 2001
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: 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: 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: 1509
Gene Symbol: CTSD
CTSD 		0.200 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: 2055
Gene Symbol: CLN8
CLN8 		0.200 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 		0.200 Biomarker disease MGD Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.200 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 		0.200 Biomarker disease MGD Autosomal dominance in a late-onset motor neuron disease in the mouse. 3783318 1986
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
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: 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: 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: 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: 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: 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