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: rs386833702
rs386833702
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs386833702
rs386833702
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: rs386833702
rs386833702
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
dbSNP: rs386833702
rs386833702
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		A 0.700 GeneticVariation CLINVAR