MOCOS, molybdenum cofactor sulfurase, 55034

N. diseases: 81; N. variants: 5
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 		0.010 GeneticVariation disease BEFREE These results indicate that a functional defect of the HMCS gene is responsible for classical xanthinuria type II, and that HMCS protein functions to provide a sulfur atom for the molybdenum cofactor of XDH and AO. 11302742 2001