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: 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: rs398122797
rs398122797
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
CUI: C1854989
Disease:
Molybdenum Cofactor Deficiency, Complementation Group B 		C 0.700 CausalMutation CLINVAR