rs104894064, CLN8

N. diseases: 3
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
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397 2004
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. 10861296 2000
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
0.700 CausalMutation CLINVAR