Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.240 GeneticVariation disease BEFREE The genomic defect causing a variant late infantile neuronal ceroid-lipofuscinosis (vLINCL, also called CLN-5 or variant Jansky-Bielschowsky disease) has recently been localized to chromosome 13q22, thus delineating this disease as a separate entity. 9100667 1997
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.240 GeneticVariation disease BEFREE 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
0.240 GeneticVariation disease BEFREE Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5). 10419622 1999
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.240 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
0.240 Biomarker disease BEFREE CLN5 genetic testing is warranted in a wider population with clinical and pathologic features suggestive of an NCL disorder. 20157158 2010