Disease: Neuronal Ceroid-Lipofuscinoses ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606737
rs267606737
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		0.710 GeneticVariation BEFREE Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875 2009
dbSNP: rs267606737
rs267606737
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.710 CausalMutation CLINVAR
dbSNP: rs386833698
rs386833698
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		G 0.700 GeneticVariation CLINVAR Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. 24271013 2014
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs386833709
rs386833709
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717 2011
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884 2010
dbSNP: rs386833720
rs386833720
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884 2010
dbSNP: rs386833694
rs386833694
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 GeneticVariation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
dbSNP: rs386833720
rs386833720
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. 17947292 2008
dbSNP: rs386833694
rs386833694
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 GeneticVariation CLINVAR Nitric oxide signaling is disrupted in the yeast model for Batten disease. 17475770 2007
dbSNP: rs386833694
rs386833694
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 GeneticVariation CLINVAR Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. 17868323 2007
dbSNP: rs386833694
rs386833694
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 GeneticVariation CLINVAR btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. 16291725 2005
dbSNP: rs386833694
rs386833694
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 GeneticVariation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980 2000
dbSNP: rs386833694
rs386833694
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
dbSNP: rs386833720
rs386833720
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
dbSNP: rs1057516677
rs1057516677
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434286
rs121434286
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555468634
rs1555468634
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		G 0.700 CausalMutation CLINVAR
dbSNP: rs386833732
rs386833732
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs386833736
rs386833736
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs386833740
rs386833740
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		GT 0.700 CausalMutation CLINVAR