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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE These findings will assist in the evaluation of roles of HSP47 in collagen misfolding and human diseases such as cancer and bone disorders. 30986427 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE These findings will assist in the evaluation of roles of HSP47 in collagen misfolding and human diseases such as cancer and bone disorders. 30986427 2020
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
0.010 Biomarker group BEFREE These findings will assist in the evaluation of roles of HSP47 in collagen misfolding and human diseases such as cancer and bone disorders. 30986427 2020
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: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
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
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE These results suggest that binding of HSP47 to DDR2 increases DDR2 stability and regulates its membrane dynamics and thereby enhances cancer cell migration and invasion. 31570520 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 Biomarker phenotype BEFREE HSP47 silencing reduced DDR2 protein stability, accompanied by suppressed cell migration and invasion. 31570520 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.040 Biomarker phenotype BEFREE Given that DDR2 has a crucial role in the epithelial-to-mesenchymal transition and cancer progression, targeting the HSP47-DDR2 interaction might be a potential strategy for inhibiting DDR2-dependent cancer progression. 31570520 2019
CUI: C0008495
Disease: Chorioamnionitis
Chorioamnionitis
0.030 Biomarker phenotype BEFREE The rates of chorioamnionitis and PPROM were significantly higher in the amniocentesis group (17 versus 2%, <i>p</i> = .0008 and 26 versus 13%, <i>p</i> = .03 respectively). 31177883 2019
CUI: C0008495
Disease: Chorioamnionitis
Chorioamnionitis
0.030 Biomarker phenotype BEFREE Our findings demonstrate that commonly used US markers were similar in pregnancies complicated by PPROM between women delivered for suspected chorioamnionitis and those delivered for other indications, and performed poorly in predicting adverse neonatal outcomes.This article is protected by copyright.All rights reserved. 31332850 2019
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease
0.030 Biomarker disease BEFREE VA-lip HSP47 eye drops are a promising prophylactic and therapeutic option against dry eye syndrome in chronic GVHD. 30940635 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE These results suggest that binding of HSP47 to DDR2 increases DDR2 stability and regulates its membrane dynamics and thereby enhances cancer cell migration and invasion. 31570520 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.020 Biomarker disease BEFREE ND-L02-s0201/BMS-986263 is a lipid nanoparticle (LNP) drug product containing a heat shock protein 47 (HSP47)-specific small interfering ribonucleic acid (siRNA) and being developed for the treatment of liver and idiopathic pulmonary fibrosis. 31332587 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 AlteredExpression disease BEFREE <i>SNHG6</i>, serpin family H member 1 (<i>SERPINH1</i>) and miR-139-5p expression levels in HCC tissues and cells were determined by quantitative real-time PCR (qRT-PCR). 31258024 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE Using the combined Sanger sequencing and TaqMan junction assays, unique and common expressions of spliced variants including enzyme regulators (ARHGEF2, SERPINH1), chromatin modifiers (DEK, CDK9, RBBP7), RNA-binding proteins (SRSF3, RBM27, MATR3, YBX1), and receptors (ADRM1, CD44v8-10, vitamin D receptor, ROR1) were determined in HCC tumors. 30637779 2019
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
0.010 Biomarker group BEFREE In this Review, we discuss the role and function of Hsp47 in vertebrate cells and its role in connective tissue disorders. 30541925 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 Biomarker disease BEFREE HSP47 is increased in patients with CRS without nasal polyps. 31664133 2019
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes
0.010 Biomarker disease BEFREE VA-lip HSP47 eye drops are a promising prophylactic and therapeutic option against dry eye syndrome in chronic GVHD. 30940635 2019
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
0.010 Biomarker disease BEFREE We explored the role of heat shock protein 47 (HSP47) in ocular GVHD and developed a novel antifibrotic topical therapy using vitamin A-coupled liposomes containing HSP47 small interfering RNA (siRNA) against HSP47 (VA-lip HSP47). 30940635 2019
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
0.010 Biomarker disease BEFREE HSP47 is increased in patients with CRS without nasal polyps. 31664133 2019
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis
0.010 Biomarker disease BEFREE HSP47 is required for the production of collagen and serves an important role in tissue remodeling, a pathophysiologic mechanism of chronic rhinosinusitis (CRS). 31664133 2019
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