Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary fructose intolerance syndrome
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
Hereditary fructose intolerance syndrome
0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Hereditary fructose intolerance syndrome
0.770 CausalMutation disease CLINVAR Hereditary fructose intolerance in Brazilian patients. 26937407 2015
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. 25595217 2015
Hereditary fructose intolerance syndrome
0.770 CausalMutation disease CLINVAR Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. 25595217 2015
Hereditary fructose intolerance syndrome
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
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
Hereditary fructose intolerance syndrome
0.770 CausalMutation disease CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936 2012
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936 2012
Hereditary fructose intolerance syndrome
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
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 20882353 2010
Hereditary fructose intolerance syndrome
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
Hereditary fructose intolerance syndrome
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
Hereditary fructose intolerance syndrome
0.770 CausalMutation disease CLINVAR Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. 20882353 2010
Hereditary fructose intolerance syndrome
0.770 GermlineCausalMutation disease ORPHANET Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650 2010
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295 2010
Hereditary fructose intolerance syndrome
0.770 CausalMutation disease CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295 2010
Hereditary fructose intolerance syndrome
0.770 CausalMutation disease CLINVAR Secondary disorders of glycosylation in inborn errors of fructose metabolism. 19768653 2009
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR Secondary disorders of glycosylation in inborn errors of fructose metabolism. 19768653 2009
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease CLINVAR Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease LHGDN Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Hereditary fructose intolerance syndrome
0.770 CausalMutation disease CLINVAR Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Hereditary fructose intolerance syndrome
0.770 GeneticVariation disease BEFREE Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Hereditary fructose intolerance syndrome
0.770 Biomarker disease CTD_human Doctor, my son is so tired... about a case of hereditary fructose intolerance. 18035330 2007