PEPD, peptidase D, 5184

N. diseases: 113; N. variants: 36
Disease: Splenomegaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.400 Biomarker phenotype CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.400 Biomarker phenotype HPO