Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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 CausalMutation disease CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198 2000
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation disease UNIPROT Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. 19309691 2009
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: 1203
Gene Symbol: CLN5
CLN5
0.970 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 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 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 Biomarker disease GENOMICS_ENGLAND
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: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation disease CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116 2008
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 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 CausalMutation 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 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 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 GeneticVariation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 Biomarker disease BEFREE To model NCL in human cells, we generated induced pluripotent stem cells (iPSCs) by reprogramming skin fibroblasts from a patient with CLN5 (ceroid lipofuscinosis, neuronal, 5) disease, the late infantile variant form of NCL. 28468312 2017
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 Biomarker disease BEFREE This study highlights the importance of Cln5 in neurodevelopment and suggests that in contrast to earlier reports, CLN5 disease is likely to develop during embryonic stages. 31294445 2019
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation 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 Biomarker disease BEFREE We found that the basal level of LC3-II was elevated in both CLN5 disease patient fibroblasts and CLN5-deficient HeLa cells. 30655561 2019
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.970 GeneticVariation disease UNIPROT Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 17607606 2007