Gene: LITAF ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c.440T>C) were discovered. 27862672 2017
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. 28211240 2017
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 Biomarker disease BEFREE Mutations in the gene-encoding vesicle lipopolysaccharide-induced tumor necrosis factor (LITAF) protein cause Charcot-Marie-Tooth type 1C (CMT1C) disease, a neurological disorder. 25245565 2015
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE SIMPLE is also clinically important and its mutation accounts for the Charcot-Marie-Tooth type 1C (CMT1C) disease. 25963657 2015
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE Mutations in LITAF have been shown to be causative for CMT type 1C disease. 25058650 2014
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 24880540 2014
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE Mutations in LITAF have been identified in Charcot-Marie tooth disease, a disease characterized by protein aggregates. 22276139 2012
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE Mutations of the LITAF gene are associated with a genetic disease, called Charcot-Marie-Tooth syndrome. 21217782 2011
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. 21896645 2011
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE No mutation was found in another CMT gene, the CMT C1 LITAF locus at 16p13.2, to suggest that this association is anything more than chance. 20724950 2010
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 Biomarker disease BEFREE We report the results of mutational analysis in the following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in 57 Charcot-Marie-Tooth (CMT) patients of Serbian origin without the PMP22 duplication. 19691535 2009
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 Biomarker disease BEFREE SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease. 16118794 2005
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE In 16 unrelated CMT families we identified nine different nucleotide variations in SIMPLE that were not detected in control chromosomes. 15776429 2005
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease BEFREE This suggests that LITAF mutations can severely affect the CMT phenotype caused by a PMP22 duplication. 15786462 2005
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 GeneticVariation disease LHGDN In 16 unrelated CMT families we identified nine different nucleotide variations in SIMPLE that were not detected in control chromosomes. 15776429 2005
Entrez Id: 9516
Gene Symbol: LITAF
LITAF 		0.100 Biomarker disease BEFREE Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. 12525712 2003