Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309740
rs864309740
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
CUI: C1848552
Disease:
Methylmalonic Aciduria and Homocystinuria, CblD Type 		GC 0.700 CausalMutation CLINVAR Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. 22156578 2012