GATA1, GATA binding protein 1, 2623

N. diseases: 264; N. variants: 19
Disease: Deficiency of Uroporphyrinogen III Synthase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2718078
Disease: Deficiency of Uroporphyrinogen III Synthase
Deficiency of Uroporphyrinogen III Synthase 		0.300 GermlineCausalMutation disease ORPHANET Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 17148589 2007