Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
0.120 GeneticVariation phenotype BEFREE The results of molecular analysis of the MMADHC gene are consistent with the hypothesis that mutations affecting the N terminus of the MMADHC protein are associated with methylmalonic aciduria, and mutations affecting the C terminus are associated with homocystinuria. 19058814 2009
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
0.120 Biomarker phenotype BEFREE The cblD gene was localized to human chromosome 2q23.2, and a candidate gene, designated MMADHC (methylmalonic aciduria, cblD type, and homocystinuria), was identified in this region. 18385497 2008
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
0.120 Biomarker phenotype HPO