MOCS2, molybdenum cofactor synthesis 2, 4338

N. diseases: 39; N. variants: 9
Disease: Molybdenum Cofactor Deficiency, Complementation Group B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908605
rs121908605
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation UNIPROT A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 16737835 2006
dbSNP: rs121908608
rs121908608
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation UNIPROT A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. 16737835 2006
dbSNP: rs121908605
rs121908605
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation 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
dbSNP: rs121908608
rs121908608
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation 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
dbSNP: rs121908608
rs121908608
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation UNIPROT Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. 12732628 2003
dbSNP: rs121908608
rs121908608
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation UNIPROT Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. 11746050 2001
dbSNP: rs121908605
rs121908605
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation UNIPROT Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 10053004 1999
dbSNP: rs121908608
rs121908608
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		0.800 GeneticVariation UNIPROT Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 10053004 1999
dbSNP: rs121908605
rs121908605
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908608
rs121908608
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		A 0.800 CausalMutation CLINVAR
dbSNP: rs398122797
rs398122797
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		C 0.700 GeneticVariation CLINVAR Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. 10053004 1999
dbSNP: rs121908606
rs121908606
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908607
rs121908607
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908609
rs121908609
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397518417
rs397518417
Entrez Id: 4338;257396
Gene Symbol: MOCS2;LOC257396
MOCS2;LOC257396
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		G 0.700 CausalMutation CLINVAR
dbSNP: rs398122797
rs398122797
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		C 0.700 CausalMutation CLINVAR
dbSNP: rs398122799
rs398122799
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs772575104
rs772575104
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		C 0.700 CausalMutation CLINVAR