Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637 2014
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 19807737 2010
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 15024724 2004