Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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 CausalMutation disease CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 12376936 2002
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.700 CausalMutation disease CLINVAR
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. 9788728 1998
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. 10356316 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876 2015
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 CausalMutation 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 		0.700 CausalMutation disease CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation 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: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
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 Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. 15317752 2004
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: 1201
Gene Symbol: CLN3
CLN3 		0.700 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
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: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
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: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. 22832778 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267 1997
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 CausalMutation disease CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998