Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833694
rs386833694
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
A 0.700 GeneticVariation CLINVAR Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. 17868323

2007

dbSNP: rs386833694
rs386833694
A 0.700 GeneticVariation CLINVAR Nitric oxide signaling is disrupted in the yeast model for Batten disease. 17475770

2007

dbSNP: rs386833694
rs386833694
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
A 0.700 GeneticVariation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000

dbSNP: rs386833694
rs386833694
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997