HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Disease: Porphyrias, Hepatic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		0.220 GeneticVariation group BEFREE Acute intermittent porphyria (AIP), caused by partial deficiency of the porphobilinogen deaminase (PBGD), is the most frequent among hepatic porphyrias. 17298218 2006
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		0.220 GeneticVariation group LHGDN Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009 2004
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		0.220 Biomarker group RGD Mechanism of hexachlorobenzene-induced porphyria in rats. Effect of phenobarbitone pretreatment. 6721832 1984