Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE SERPINH1 mutations have been associated with one of the rarest forms of recessively inherited osteogenesis imperfecta (OI) with a moderate to severe phenotype. 31179625 2019
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE We reported novel compound heterozygous mutations in SERPINH1 in a Chinese OI patient for the first time, which expanded the spectrum of phenotype and genotype of extremely rare OI type X. 29520608 2018
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE Mutations in Hsp47 are causally associated with osteogenesis imperfecta. 27838364 2017
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE There is minimal literature on the mechanism of action for variants in SERPINH1 resulting in osteogenesis imperfecta. 27677223 2016
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients. 27706701 2016
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE Although the chemical chaperone 4-PBA partially restores the solubility of the Hsp47 OI mutants, collagen-binding activity of Hsp47 was not improved. 26692483 2016
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE We have identified a new OI mutation in SERPINH1 that results in destabilization and mislocalization of HSP47 and secondarily has similar effects on FKBP65. 25510505 2015
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 Biomarker disease BEFREE Heat shock protein 47 (HSP47) and FK506-binding protein-65 (FKBP65) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinking, folding, and chaperoning, while defects in SP7 transcription factor, wingless-type MMTV integration site family member 1 (WNT1), trimeric intracellular cation channel type b (TRIC-B), and old astrocyte specifically induced substance (OASIS) disrupt osteoblast development. 25007323 2014
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 AlteredExpression disease BEFREE Interestingly, a downregulation of HSP47, a specific collagen chaperone known to be upregulated in some OI cases, was detected. 24022296 2014
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of patients with autosomal recessive OI. 21667357 2012
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE Since then, an additional putative collagen chaperone complex, composed of FKBP10 (also known as FKBP65) and SERPINH1 (also known as HSP47), also has been shown to be mutated in recessive OI. 20839288 2011
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE Six other genes, CRTAP, LEPRE1, FKBP10, PP1B, SP7/Osterix (OSX), and SERPINH1, are associated with autosomal recessive forms of OI. 21567925 2011
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE Identification of this mutation in SERPINH1 gives further insight into critical steps of the collagen biosynthetic pathway and the molecular pathogenesis of OI. 20188343 2010
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 GeneticVariation disease BEFREE A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. 19629171 2009
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 Biomarker disease BEFREE In normal fibroblasts, 2 h after the addition of ascorbate, most of the procollagen had disappeared from the cells, while in OI fibroblasts, abnormal procollagen molecules and HSP 47 were still retained in the ER. 9602714 1998
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.300 Biomarker disease MGD