Gene: FBXL3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
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: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116 2008
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
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: 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: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079 2002
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: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 GeneticVariation disease CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198 2000
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 CausalMutation disease CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079 2002
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 CausalMutation disease CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541 2013
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 CausalMutation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
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: 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 CausalMutation disease CLINVAR CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406 1998
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.100 CausalMutation disease CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198 2000
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