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 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: 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 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 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: 4691
Gene Symbol: NCL
NCL
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: 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: 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 UNIPROT A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. 15728307 2005
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 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: 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 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 We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells. 20052765 2010