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: rs1555274373
rs1555274373
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		G 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013