Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 GeneticVariation disease BEFREE Here, we summarize the current understanding of the thirteen identified NCL genes and the proteins they encode, touching upon the spectrum of clinical manifestations linked to each of the genes, and we highlight recent progress leading to a broader understanding of key pathways involved in NCL disease pathogenesis and commonalities with other neurodegenerative diseases. 31678159 2019
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 GeneticVariation disease BEFREE To date 14 sequence variants in 8 canine orthologs of human NCL genes have been found to cause progressive neurological disorders similar to human NCLs in 12 different dog breeds. 31101435 2019
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 GeneticVariation disease BEFREE To date 13 sequence variants in 8 canine orthologs of human NCL genes have been found to occur in 11 dog breeds in which they result in progressive neurological disorders similar to human NCLs. 30956123 2019
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 GeneticVariation disease BEFREE To date, 12 mutations in 8 different genes orthologous to the human NCL genes have been found to underlie NCL in a variety of dog breeds. 28860089 2017
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 Biomarker disease BEFREE 14 different genes have been linked to NCLs (CLN1-CLN14), but the functions of the proteins encoded by the majority of these genes have not been fully elucidated. 28442266 2017
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 Biomarker disease BEFREE In this review we will chronologically summarise work which has led over the years to identification of NCL genes, and outline the potential of novel genomic techniques and related bioinformatic approaches for further genetic dissection and diagnosis of NCLs. 23274885 2013
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 GeneticVariation disease BEFREE We report our linkage data on a family with late-infantile NCL and show that the disease in this family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). 19277732 2009
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 GeneticVariation disease BEFREE All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL). 11589012 2001
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 GeneticVariation disease BEFREE Mutations in different genes underlie different forms of the neuronal ceroid lipofuscinoses (NCLs, Batten disease). 10356317 1999