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 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: 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 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 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 BEFREE We also reveal that both Dictyostelium Cln5 and human CLN5 are glycoside hydrolases, providing the first evidence in any system linking a molecular function to CLN5. 29128403 2018
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: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
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: 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: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585 2006
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: 1203
Gene Symbol: CLN5
CLN5 		0.970 CausalMutation disease CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541 2013
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: 1203
Gene Symbol: CLN5
CLN5 		0.970 GeneticVariation disease UNIPROT Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.970 Biomarker disease CTD_human
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.010 GeneticVariation disease BEFREE We conclude the following: 1) the CLN6 gene may be a highly mutable gene; 2) exon 4 must code for a segment of the protein crucial for function; 3) vLINCL disease in Portugal is genetically heterogeneous; 4) the I154del accounts for 81.25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene. 12673792 2003
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: 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 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 GeneticVariation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 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