Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312751
rs869312751
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
dbSNP: rs869312751
rs869312751
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 CausalMutation CLINVAR CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 23160995 2012