Gene: FBXL4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1182326570
rs1182326570
FBXL4
A 0.700 CausalMutation CLINVAR Molecular and clinical spectra of FBXL4 deficiency. 28940506

2017
dbSNP: rs1182326570
rs1182326570
FBXL4
A 0.700 CausalMutation CLINVAR FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 27743463

2017
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 27743463

2017
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Molecular and clinical spectra of FBXL4 deficiency. 28940506

2017
dbSNP: rs754142863
rs754142863
FBXL4
T 0.700 CausalMutation CLINVAR FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 27743463

2017
dbSNP: rs754142863
rs754142863
FBXL4
T 0.700 CausalMutation CLINVAR Molecular and clinical spectra of FBXL4 deficiency. 28940506

2017
dbSNP: rs772037717
rs772037717
FBXL4
G 0.700 GeneticVariation CLINVAR A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. 27182039

2016
dbSNP: rs1182326570
rs1182326570
FBXL4
A 0.700 CausalMutation CLINVAR Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25868664

2015
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25868664

2015
dbSNP: rs754142863
rs754142863
FBXL4
T 0.700 CausalMutation CLINVAR Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25868664

2015
dbSNP: rs1182326570
rs1182326570
FBXL4
A 0.700 CausalMutation CLINVAR Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 23993193

2013
dbSNP: rs1182326570
rs1182326570
FBXL4
A 0.700 CausalMutation CLINVAR Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. 23993194

2013
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 23993193

2013
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. 23993194

2013
dbSNP: rs754142863
rs754142863
FBXL4
T 0.700 CausalMutation CLINVAR Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 23993193

2013
dbSNP: rs754142863
rs754142863
FBXL4
T 0.700 CausalMutation CLINVAR Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. 23993194

2013
dbSNP: rs1182326570
rs1182326570
FBXL4
A 0.700 CausalMutation CLINVAR Identification of a family of human F-box proteins. 10531035

1999
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Identification of a family of human F-box proteins. 10531035

1999
dbSNP: rs754142863
rs754142863
FBXL4
T 0.700 CausalMutation CLINVAR Identification of a family of human F-box proteins. 10531035

1999