Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II
0.720 GeneticVariation UNIPROT Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria. 17368066

2007

Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II
0.720 GeneticVariation UNIPROT Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. 14624414

2003

Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II
0.720 GeneticVariation UNIPROT 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