Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 Biomarker disease BEFREE A sequence analysis indicated that the CLN3 gene was not likely to be responsible for this case of feline NCL because no deleterious mutation was detected. 22627044 2012
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.700 GeneticVariation disease BEFREE The affected gene is CLN6, previously known to underlie variant late-infantile and adult-onset neuronal ceroid lipofuscinoses. 22883287 2012
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 Biomarker disease BEFREE Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. 20680390 2011
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 CausalMutation disease CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717 2011
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 Biomarker disease BEFREE Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. 20680390 2011
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 CausalMutation disease CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884 2010
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139 2010
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 Biomarker disease MGD Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla. 20219947 2010
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease BEFREE A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. 19135632 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.700 GeneticVariation disease BEFREE Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. 18811591 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 Biomarker disease BEFREE Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. 19038967 2009
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.700 Biomarker disease BEFREE To further understand the significance and possible contribution to vLINCL of the CLN6-CRMP-2 interaction, we utilized the nclf mouse, which harbors mutations in CLN6. 19235893 2009
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 CausalMutation disease CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. 19793312 2009
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease BEFREE Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.700 GeneticVariation disease LHGDN Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. 19135028 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. 18283468 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 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 		0.700 GeneticVariation disease LHGDN However, mutations in CLN3 are linked to juvenile NCL (JNCL), the latest onset and mildest form of NCL in children.We sought to explain this paradox. 17947292 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease BEFREE However, mutations in CLN3 are linked to juvenile NCL (JNCL), the latest onset and mildest form of NCL in children.We sought to explain this paradox. 17947292 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 CausalMutation disease CLINVAR However, mutations in CLN3 are linked to juvenile NCL (JNCL), the latest onset and mildest form of NCL in children.We sought to explain this paradox. 17947292 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) belongs to the neuronal ceroid lipofuscinoses characterized by blindness/seizures/motor/cognitive decline and early death. 18317235 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease CLINVAR Nitric oxide signaling is disrupted in the yeast model for Batten disease. 17475770 2007
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease CLINVAR Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. 17868323 2007