Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
0.700 GeneticVariation 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 GeneticVariation CLINVAR CLN8 disease caused by large genomic deletions. 28116333 2017