F2R, coagulation factor II thrombin receptor, 2149

N. diseases: 347; N. variants: 10
Disease: Penis agenesis ×
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 Synthesis of the dysmorphic features identified in individuals with rec(X) chromosomes, including deletions in the pseudoautosomal region 1 (PAR1) at Xp22.33/Yp11.3 and duplications of the distal Xq region including MECP2, revealed a high prevalence of undescended testes (7/8) and micropenis (3/8) in this cohort. 22581587 2012