Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 GeneticVariation CLINVAR Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. 11241479 2001