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: 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