Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.400 CausalMutation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation 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: 2055
Gene Symbol: CLN8
CLN8 		0.400 CausalMutation disease CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637 2014
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 CausalMutation disease CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660 2007
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.400 CausalMutation disease CLINVAR The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. 10861296 2000
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.400 CausalMutation disease CLINVAR Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 19807737 2010
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.400 CausalMutation disease CLINVAR Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 15024724 2004
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.400 CausalMutation disease CLINVAR Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397 2004
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 CausalMutation disease CLINVAR Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 25574475 2014
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 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 		0.400 CausalMutation 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 		0.400 CausalMutation disease CLINVAR Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. 20960652 2008
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.400 CausalMutation disease CLINVAR
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 CausalMutation disease CLINVAR New mutations in the neuronal ceroid lipofuscinosis genes. 11589012 2001
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 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 		0.400 CausalMutation 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 		0.400 CausalMutation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. 11971870 2002
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652 2015
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 CausalMutation disease CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943 2000
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218 2012
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 CausalMutation disease CLINVAR Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237 1998
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957 2013
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 CausalMutation disease CLINVAR Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding assays. 12134079 2002