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: 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: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Here, we construct a tumour microenvironment-responsive nanosystem, based on PEGylated polyethylenimine-coated gold nanoparticles, and utilise it to co-deliver all-trans retinoic acid (ATRA, an inducer of PSC quiescence) and siRNA targeting heat shock protein 47 (HSP47, a collagen-specific molecular chaperone) to re-educate PSCs. 30139933 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE In this review, we highlight the fundamental aspects of the interaction between HSP47 and collagen and the recent discoveries of the role of this chaperone in different types of malignant neoplasias. 30128672 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 Biomarker group BEFREE We also discuss recent treatments using HSP47 as a therapeutic target, and present evidences that HSP47 is an essential protein for cancer biology and a potential molecular target for chemotherapy. 30128672 2018
CUI: C0399440
Disease: Hereditary gingival fibromatosis
Hereditary gingival fibromatosis 		0.040 Biomarker disease BEFREE We report that fibrosis in HGF gingival tissues is associated with increased synthesis of HSP47. 29989318 2018
CUI: C0022548
Disease: Keloid
Keloid 		0.030 AlteredExpression disease BEFREE Elevated collagen production is correlated with HSP47 expression in various diseases, including fibrosis and keloid. 29438711 2018
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		0.030 Biomarker disease BEFREE We explored the role of HSP47 in the fibrotic process of cutaneous chronic GVHD in mice. 29363541 2018
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		0.030 AlteredExpression disease BEFREE Flow cytometric analysis showed that the LG fibroblasts in cGVHD had elevated HSP47 levels. 29053559 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE We also discuss recent treatments using HSP47 as a therapeutic target, and present evidences that HSP47 is an essential protein for cancer biology and a potential molecular target for chemotherapy. 30128672 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.020 Biomarker disease BEFREE Treatment of pulmonary fibrosis with siRNA against a collagen-specific chaperone HSP47 in vitamin A-coupled liposomes. 29035148 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 Biomarker disease BEFREE Further studies are warranted to determine if TBBPA increases the risk of adverse pregnancy outcomes such as preterm birth, pPROM and neurodevelopmental disorders such as autism that have been associated with increased production of proinflammatory cytokines, oxidative stress and/or T. 30055667 2018
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.010 Biomarker disease BEFREE Morphological assessment showed that VA-lip-siRNA HSP47 also significantly improved the morphological pulmonary fibrosis of BLM-treated rats in both preventive and therapeutic schedules. 29035148 2018
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 GeneticVariation disease BEFREE Women with endometriosis are at elevated risk for serious and important adverse maternal (pre-eclampsia, gestational diabetes, placenta praevia and Cesarean section) and fetal or neonatal outcomes (preterm birth, PPROM, small for gestational age, stillbirth and neonatal death). 30239732 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE For example, the expression changing of SERPINH1 only appeared in the acute phase of stroke showing its targeting role in the combined biomarker. 30158363 2018
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE We have thus shown for the first time that SERPINH1 is an independent precision predictor for unfavourable prognosis in ccRCC. 29239102 2018
CUI: C1333964
Disease: Liver Dysplastic Nodule
Liver Dysplastic Nodule 		0.010 AlteredExpression disease BEFREE In DN, significantly higher mRNA expression of FBN1 (P=.014), SMAD7 (P=.019), HSP47 (P=.023), and SERPINE1 (P=.008), but a lower HSPA5 expression (P=.029), was observed than in HI. 29198452 2018
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		0.010 Biomarker phenotype BEFREE Studies have shown that HSP47 promotes tumor angiogenesis, growth, migration and metastatic capacity. 30128672 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE Further studies are warranted to determine if TBBPA increases the risk of adverse pregnancy outcomes such as preterm birth, pPROM and neurodevelopmental disorders such as autism that have been associated with increased production of proinflammatory cytokines, oxidative stress and/or T. 30055667 2018
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.010 AlteredExpression disease BEFREE VA-lip HSP47 knocked down HSP47 expression in myofibroblasts and significantly reduced collagen deposition without inducing systemic immunosuppression. 29363541 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: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.300 GeneticVariation disease BEFREE Mutations in Hsp47 are causally associated with osteogenesis imperfecta. 27838364 2017