Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 CausalMutation CLINVAR CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 23160995 2012