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 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 Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198 2000
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: 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 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 GeneticVariation disease UNIPROT 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 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 Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
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 UNIPROT Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. 17607606 2007
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: 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 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 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 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 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 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 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 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 Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585 2006