Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2512
Gene Symbol: FTL
FTL
0.240 GeneticVariation group BEFREE Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized by iron deposition in the brain, particularly in the cerebellum, basal ganglia and motor cortex. 25689865 2015
Entrez Id: 2512
Gene Symbol: FTL
FTL
0.240 GeneticVariation group BEFREE Mutations in the coding sequence of the ferritin light chain (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy, which is characterized by the presence of intracellular inclusion bodies containing the mutant FTL polypeptide and by abnormal accumulation of iron in the brain. 19923220 2010
Entrez Id: 2512
Gene Symbol: FTL
FTL
0.240 GeneticVariation group BEFREE The finding that mutations in the ferritin light polypeptide (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy (HF) provided a direct connection between abnormal brain iron storage and neurodegeneration. 18171923 2008
Entrez Id: 2512
Gene Symbol: FTL
FTL
0.240 Biomarker group CTD_mouse Pharmacogenomic profiling of an oxidative stress-mediated spongiform encephalopathy. 15964507 2005
Entrez Id: 2512
Gene Symbol: FTL
FTL
0.240 GeneticVariation group BEFREE Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. 15099026 2004