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: 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: 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