FECH, ferrochelatase, 2235

N. diseases: 88; N. variants: 25
Disease: Myeloproliferative disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.010 GeneticVariation group BEFREE Here we report that severe photosensitivity and cholestatic liver disease in a patient with a myeloproliferative disorder was caused by excess protoporphyrin production from a clone of hematopoietic cells in which one FECH allele had been deleted. 16150949 2006