XDH, xanthine dehydrogenase, 7498

N. diseases: 165; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		0.010 Biomarker disease BEFREE The G418-resistant clone XAN1 was isolated and its DNA repair phenotype compared with XP12BE-SV cells transformed with a cosmid containing a human chromosome 8 gene and a neo(r) cassette and selected for G418 resistance (2-0-A2), DNA repair-normal human fibroblasts and untransfected XP12BE-SV cells. 8824513 1996
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		0.100 GeneticVariation disease CLINVAR Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 9153281 1997
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		0.100 CausalMutation disease CLINVAR
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 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 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 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 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 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 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 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 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 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 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 CausalMutation disease CLINVAR
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 BEFREE Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 9153281 1997
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		0.140 GeneticVariation disease BEFREE Mutations in the xanthine dehydrogenase gene (XDH), which codes for the last enzyme of the purine catabolic pathway in man, cause the autosomal recessive disease xanthinuria. 7956361 1995
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		0.140 Biomarker disease BEFREE Based on a mutation identified in a patient suffering from xanthinuria I, the corresponding arginine 135 was substituted to a cysteine in R. capsulatus XDH, and the protein variant was purified and characterized. 12670960 2003
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		0.140 Biomarker disease BEFREE Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. 23203137 2012
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		0.140 Biomarker disease HPO
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		0.140 GeneticVariation disease BEFREE Xanthinuria due to xanthine dehydrogenase (XDH) deficiency is a rare genetic disorder characterized by hypouricemia and the accumulation of xanthine in the urine. 22981351 2012
CUI: C1848431
Disease: Xanthine nephrolithiasis
Xanthine nephrolithiasis 		0.100 Biomarker phenotype HPO
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.300 Biomarker disease CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002