FECH, ferrochelatase, 2235

N. diseases: 88; N. variants: 25
Disease: Bovine Protoporphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4329489
Disease: Bovine Protoporphyria
Bovine Protoporphyria 		0.020 GeneticVariation disease BEFREE A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease. 9784594 1998
CUI: C4329489
Disease: Bovine Protoporphyria
Bovine Protoporphyria 		0.020 AlteredExpression disease BEFREE Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity. 7072720 1982