Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23. 11589002 2001
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia. 19520283 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. 12815591 2003
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE A survey of fibroblasts and lymphoblasts demonstrated that lack of activity was associated with LINCL arising from mutations in the CLN2 gene but not other neuronal ceroid lipofuscinoses (NCLs), including the CLN6 variant LINCL, classical infantile NCL, classical juvenile NCL, and adult NCL (Kufs' disease). 10428067 1999
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. 12673792 2003
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE CLN6, the gene for a variant late infantile neuronal ceroid lipofuscinosis, has been mapped to chromosome 15q21-23 by homozygosity mapping. 10191123 1999
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE Mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis (LINCL), and teenage and adult onset NCL without visual impairment. 30528883 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report. 30285654 2018
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 Biomarker disease CTD_human Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis. 23789114 2013
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 GeneticVariation disease BEFREE A relatively inexpensive CLN6 mutation screening should be considered first in Morocco as an initial diagnosis step when the disease course is consistent with late infantile neuronal ceroid-lipofuscinosis. 23180398 2013
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.590 Biomarker disease MGD Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. 9600738 1998