HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 AlteredExpression disease BEFREE Coordinately, the relative expression of PBGD mRNA, which encodes porphobilinogen deaminase, the third enzyme in the heme synthesis pathway and a secondary rate-limiting enzyme in heme biosynthesis, was also significantly (p<0.02) reduced by nearly 60% in AD brain compared to control and significantly related to apolipoprotein E genotype (p<0.005). 19477221 2009