rs104894064, CLN8

N. diseases: 3
Disease: Northern epilepsy syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Northern epilepsy syndrome
CUI: C1864923
Disease: Northern epilepsy syndrome
0.800 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
Northern epilepsy syndrome
CUI: C1864923
Disease: Northern epilepsy syndrome
0.800 GeneticVariation UNIPROT EPMR patients were homozygous for a missense mutation (70C-->G, R24G) that was not found in homozygosity in 433 controls.We also cloned the mouse Cln8 sequence. 10508524 1999
Northern epilepsy syndrome
CUI: C1864923
Disease: Northern epilepsy syndrome
0.800 CausalMutation CLINVAR