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: rs121908292
rs121908292
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
dbSNP: rs121908292
rs121908292
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 GeneticVariation CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116 2008
dbSNP: rs121908292
rs121908292
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 CausalMutation CLINVAR