rs386833697, CLN3

N. diseases: 1
Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
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
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR