Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.020 GeneticVariation group BEFREE Mutations in CLN3 result in the neurological disorder Batten disease. 15823567 2005
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.020 Biomarker group BEFREE Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive neurologic disorder which results from mutations in the CLN3 gene, which normally produces a 48-kDa polypeptide of unknown function. 10191116 1999