SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 GeneticVariation disease BEFREE Mutation in serpin peptidase inhibitor clade H, member 1 (SERPINH1), which encodes heat shock protein 47 (HSP47), leads to rare autosomal recessive OI type X. 29520608 2018
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 CausalMutation disease CLINVAR
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 GeneticVariation disease UNIPROT Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 20188343 2010
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 Biomarker disease CTD_human
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 Biomarker disease MGD
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 Biomarker disease 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: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.500 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.500 Biomarker disease 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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.360 Biomarker disease CTD_human Precision-cut liver slices as a model for the early onset of liver fibrosis to test antifibrotic drugs. 24321339 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.360 Biomarker disease BEFREE Thereafter, according to the co-expression network analysis, the regulations of three core genes (Cenpp, Cyp2c55, Serpinh1) were verified that might be targets for treating liver fibrosis. 31047894 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.360 AlteredExpression disease BEFREE Hsp47 is a collagen-specific molecular chaperone, whose activity has been implicated in liver fibrosis. 23587601 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.360 Biomarker disease BEFREE The effect of LF on heat shock protein 47 (HSP47) has not yet been studied so this study was designed to investigate LF effect on HSP47 as a potential target for management of liver fibrosis and comparing it with silymarin (SM) in a thioacetamide (TAA)-induced liver fibrosis model. 30092114 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.360 Biomarker disease BEFREE HSP47 knockdown ameliorates liver fibrosis by inhibiting collagen secretion, and inhibition of the interaction of HSP47 with procollagen also prevents collagen secretion. 29438711 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.360 AlteredExpression disease BEFREE In addition, pPB-SNALP also exhibited an enhanced inhibitory effect on TAA-induced hepatic fibrosis mice with high gp46 mRNA expression in vivo. 29148802 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.360 Biomarker disease BEFREE HSP47 might exert influence on liver fibrosis via the regulation of ETAR and ETBR. 28802097 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.300 Biomarker disease CTD_human Precision-cut liver slices as a model for the early onset of liver fibrosis to test antifibrotic drugs. 24321339 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Resolution of liver cirrhosis using vitamin A-coupled liposomes to deliver siRNA against a collagen-specific chaperone. 18376398 2008
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.300 GeneticVariation disease BEFREE A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. 19629171 2009
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.300 Biomarker disease MGD
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.300 GeneticVariation disease BEFREE There is minimal literature on the mechanism of action for variants in SERPINH1 resulting in osteogenesis imperfecta. 27677223 2016
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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