Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation 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 GermlineCausalMutation disease ORPHANET 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 Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295 2010
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295 2010
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Secondary disorders of glycosylation in inborn errors of fructose metabolism. 19768653 2009
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Secondary disorders of glycosylation in inborn errors of fructose metabolism. 19768653 2009
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease LHGDN Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease BEFREE Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients. 18541450 2008
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 Biomarker disease CTD_human Doctor, my son is so tired... about a case of hereditary fructose intolerance. 18035330 2007