HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Disease: Porphyric polyneuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1268588
Disease: Porphyric polyneuropathy
Porphyric polyneuropathy 		0.010 Biomarker disease BEFREE We have studied porphyric neuropathy in mice with a partial deficiency of porphobilinogen deaminase (PBGD). 10207164 1999