SERPINF1, serpin family F member 1, 5176

N. diseases: 294; N. variants: 15
Disease: Osteogenesis Imperfecta, Type VI ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 GeneticVariation disease BEFREE Mutations in Serpinf1 gene which encodes pigment epithelium-derived factor (PEDF) lead to osteogenesis imperfecta type VI whose hallmark is defective matrix mineralization. 30607618 2019
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 GeneticVariation disease BEFREE Patients with OI type VI (due to SERPINF1 mutations) scored similar to OI type V for "centreline." 29388328 2018
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease BEFREE SERPINF1 mutations caused deficiency of pigment epithelium-derived factor (PEDF) and would lead to osteogenesis imperfecta (OI) type VI. 29104038 2018
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 GeneticVariation disease BEFREE Mutations in Serpinf1 gene which encodes pigment epithelium derived factor (PEDF) lead to osteogenesis imperfecta type VI whose hallmark is defective mineralization. 30076958 2018
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 AlteredExpression disease BEFREE We identified five novel mutations in SERPINF1 and confirmed the diagnostic value of serum PEDF level for the first time in Chinese patients with the extremely rare OI type VI. 27796462 2017
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 GeneticVariation disease BEFREE Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations. 28689307 2017
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease BEFREE We tested whether restoration of circulating PEDF in the blood could correct the phenotype of OI type VI in the context of protein replacement. 26693895 2016
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 GeneticVariation disease BEFREE Here, we report on two apparently unrelated children with OI type VI who had the same unusual homozygous variant in intron 6 of SERPINF1 (c.787-10C>G). 26815784 2016
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 GeneticVariation disease BEFREE The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI. 25868797 2015
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease BEFREE SERPINF1 sequences were normal despite bone histomorphometry consistent with type VI OI and elevated childhood serum alkaline phosphatase. 24519609 2014
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease BEFREE Recently, SERPINF1 has been reported as another causative gene in OI type VI. 23853499 2013
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease MGD The findings in this mouse model mimic the principal structural and biochemical features of bone observed in humans with OI type VI and consequently provide a useful model with which to further investigate the role of PEDF in this bone disorder. 23413146 2013
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease BEFREE The findings in this mouse model mimic the principal structural and biochemical features of bone observed in humans with OI type VI and consequently provide a useful model with which to further investigate the role of PEDF in this bone disorder. 23413146 2013
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease BEFREE Determining PEDF serum concentration helps to diagnose OI type VI but does not seem to provide information on the activity of bone turnover or mineralization. 22669302 2012
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 GeneticVariation disease BEFREE We identified for the first time an in-frame duplication in SERPINF1 that is responsible for the OI type VI phenotype in this patient. 22528245 2012
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. 21353196 2011
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease BEFREE We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF1) in two affected members of this family and in an additional unrelated patient with OI type VI. 21826736 2011
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 CausalMutation disease CLINVAR
CUI: C3279564
Disease: Osteogenesis Imperfecta, Type VI
Osteogenesis Imperfecta, Type VI 		0.900 Biomarker disease CTD_human