Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51085
Gene Symbol: MLXIPL
MLXIPL 		0.010 Biomarker disease BEFREE We recently identified that the loss of ChREBP leads to fructose intolerance via insufficient induction of genes involved in fructose transport and metabolism in the intestine. 30158026 2018
Entrez Id: 3795
Gene Symbol: KHK
KHK 		0.010 Biomarker disease BEFREE Mechanistically, our studies suggest that it is the inhibition of the Khk C isoform, not the A isoform, that protects animals from HFI. 29533924 2018
Entrez Id: 3240
Gene Symbol: HP
HP 		0.010 Biomarker disease BEFREE Although secondary glycosylation defects such as alcoholism, untreated fructosemia and bacterial neuraminidase remain to be excluded, we showed that 2-DE pattern of haptoglobin β glycoforms thus constitute a very reliable additional biomarker of all types of CDGs. 28457853 2017
Entrez Id: 388007
Gene Symbol: SERPINA13P
SERPINA13P 		0.010 Biomarker disease BEFREE Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI. 10869005 2000
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. 23670307 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR ANO5-muscular dystrophy: clinical, pathological and molecular findings. 23663589 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 23606453 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR Dilated cardiomyopathy in patients with mutations in anoctamin 5. 23041008 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 22402862 2012
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397 2010
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum. 27797444 2017
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Hereditary fructose intolerance in Brazilian patients. 26937407 2015
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. 25595217 2015
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. 25595217 2015
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 Biomarker disease BEFREE The Aldo2(-/-) homozygous mice show similar pathology following exposure to fructose as humans with HFI such as failure to thrive, liver dysfunction, and potential morbidity. 25637246 2015
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936 2012
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936 2012
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. 23114028 2012
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 20882353 2010
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease UNIPROT Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650 2010
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650 2010