rs121908292, CLN5;FBXL3

N. diseases: 1
Source: ALL
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 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116 2008
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 CausalMutation CLINVAR