rs386833730, 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
0.810 GeneticVariation UNIPROT 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
0.810 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. 22261744 2012
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.810 GeneticVariation BEFREE The disease severity of Batten disease-causing mutations (G187A, E295K and V330F), when expressed in btn1 appeared to correlate with their effect on vacuolar pH, suggesting that elevated lysosomal pH contributes to the disease process. 16291725 2005
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.810 GeneticVariation UNIPROT Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299 1998
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.810 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.810 GeneticVariation CLINVAR