CYB5A, cytochrome b5 type A, 1528

N. diseases: 95; N. variants: 4
Disease: Adrenal hyperplasia, congenital, type 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268285
Disease: Adrenal hyperplasia, congenital, type 5
Adrenal hyperplasia, congenital, type 5 		0.300 GermlineCausalMutation disease ORPHANET Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. 20080843 2010