Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
0.120 GeneticVariation disease BEFREE Mutations in FBXL4 (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial protein with an unknown function, cause mitochondrial DNA depletion syndrome. 31442532 2019
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
0.120 Biomarker disease BEFREE FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 27743463 2017
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
0.120 CausalMutation disease CLINVAR Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. 27099744 2016
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
0.120 CausalMutation disease CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
0.120 CausalMutation disease CLINVAR Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 23993193 2013