SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Disease: Preterm premature rupture of membranes (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0729264
Disease: Preterm premature rupture of membranes (disorder)
Preterm premature rupture of membranes (disorder) 		0.500 Biomarker phenotype GENOMICS_ENGLAND Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 20188343 2010
CUI: C0729264
Disease: Preterm premature rupture of membranes (disorder)
Preterm premature rupture of membranes (disorder) 		0.500 Biomarker phenotype CTD_human