XDH, xanthine dehydrogenase, 7498

N. diseases: 165; N. variants: 24
Disease: Xanthinuria, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease BEFREE Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. 23249873 2013
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease BEFREE In this report, a case of xanthinuria type I with mutations of XDH was identified and characterized by expression studies. 22981351 2012
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 Biomarker disease BEFREE Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR) due to genetic defect in the molybdenum cofactor sulfurase. 23203137 2012
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease UNIPROT Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. 14551354 2003
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease BEFREE In a Turkish family, we identified a novel point mutation in the XDH gene responsible for classical type I xanthinuria. 14551354 2003
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease UNIPROT Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. 11379872 2001
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease BEFREE Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria. 11379872 2001
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease UNIPROT These results reinforce the notion that mutations in the XDH gene are the underlying cause of classical xanthinuria type I. 10844591 2000
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 Biomarker disease GENOMICS_ENGLAND Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities. 9153281 1997
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GermlineCausalMutation disease ORPHANET Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities. 9153281 1997
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease UNIPROT Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities. 9153281 1997
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease BEFREE Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 9153281 1997
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 GeneticVariation disease CLINVAR
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 Biomarker disease CTD_human
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		0.760 CausalMutation disease CLINVAR