Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells. 20052765 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease BEFREE We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells. 20052765 2010
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 CausalMutation disease CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765 2010
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158 2010
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GermlineCausalMutation disease ORPHANET Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218 2012
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. 22727047 2012
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. 22727047 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 23160995 2012
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 CausalMutation disease CLINVAR CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 23160995 2012
Entrez Id: 497231
Gene Symbol: CLN9
CLN9 		0.010 GeneticVariation disease BEFREE Four patients with juvenile neuronal ceroid lipofuscinoses, a childhood neurodegenerative disorder that was previously described as CLN9 variant, are reclassified as CLN5 disease. 23160995 2012
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 CausalMutation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541 2013