Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 Biomarker disease CTD_human
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation disease UNIPROT A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. 15728307 2005
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 Biomarker disease MGD A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. 15459177 2004
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
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: 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 GeneticVariation disease UNIPROT CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406 1998
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 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: 1203
Gene Symbol: CLN5
CLN5
0.970 Biomarker disease GENOMICS_ENGLAND 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 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406 1998
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 BEFREE Mutations in CLN5 underlie CLN5 disease. 28487519 2017
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation disease BEFREE Mutations in the CLN5 gene are responsible for the Finnish variant late-infantile form of NCL (Finnish vLINCL). 28442266 2017
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation disease CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 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 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 Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation disease CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198 2000