Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833697
rs386833697
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		A 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs386833697
rs386833697
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		A 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
dbSNP: rs386833697
rs386833697
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		A 0.700 GeneticVariation CLINVAR