PAPPA2, pappalysin 2, 60676

N. diseases: 28; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
0.010 Biomarker disease BEFREE In humans, case reports of mutations in the genes affecting the GH-IGF axis and growth (GH, GHRH, GH-R, STAT5b, IGF-I, IGF-II, IGF-1R, PAPPA2) are also characterized by delayed pubertal onset and micropenis. 30840065 2019