FKBP5, FKBP prolyl isomerase 5, 2289

N. diseases: 179; N. variants: 20
Disease: Osteitis Deformans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.010 GeneticVariation disease BEFREE Herein, we report a case of Chinese familial PDB without mutations in known genes and identify a novel c.163G>C (p.Val55Leu) mutation in FKBP5 (encodes FK506-binding protein 51, FKBP51) associated with PDB using whole-exome sequencing. 28524179 2017