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: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 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: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717 2011
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884 2010
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
dbSNP: rs386833695
rs386833695
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997