rs386833702, CLN3

N. diseases: 1
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 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
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 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735 1997
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR