MOCOS, molybdenum cofactor sulfurase, 55034

N. diseases: 81; N. variants: 5
Disease: Xanthinuria, Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037854
rs886037854
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
CUI: C1863688
Disease:
Xanthinuria, Type II 		0.800 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
dbSNP: rs886037854
rs886037854
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
CUI: C1863688
Disease:
Xanthinuria, Type II 		0.800 GeneticVariation UNIPROT Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. 14624414 2003
dbSNP: rs886037854
rs886037854
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
CUI: C1863688
Disease:
Xanthinuria, Type II 		0.800 GeneticVariation UNIPROT Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. 11302742 2001
dbSNP: rs886037854
rs886037854
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
CUI: C1863688
Disease:
Xanthinuria, Type II 		C 0.800 CausalMutation CLINVAR