MOCS2, molybdenum cofactor synthesis 2, 4338

N. diseases: 39; N. variants: 9
Disease: Molybdenum Cofactor Deficiency, Complementation Group B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 GeneticVariation disease UNIPROT A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 16737835 2006
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 Biomarker disease GENOMICS_ENGLAND A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 16737835 2006
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 GeneticVariation disease UNIPROT Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. 16021469 2005
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 GeneticVariation disease UNIPROT Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. 12732628 2003
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 GeneticVariation disease UNIPROT Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 11746050 2001
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 GeneticVariation disease UNIPROT Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 10053004 1999
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 GeneticVariation disease CLINVAR Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 10053004 1999
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 Biomarker disease CTD_human
CUI: C1854989
Disease: Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group B 		0.700 CausalMutation disease CLINVAR