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: 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 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 AlteredExpression disease BEFREE Interestingly, a downregulation of HSP47, a specific collagen chaperone known to be upregulated in some OI cases, was detected. 24022296 2014
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.300 Biomarker disease CTD_human MicroRNA and mRNA expression profiling in rat acute respiratory distress syndrome. 25070658 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 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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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
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: C0022116
Disease: Ischemia
Ischemia 		0.300 Biomarker phenotype CTD_human Reactive oxygen species/oxidative stress contributes to progression of kidney fibrosis following transient ischemic injury in mice. 19458120 2009
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: 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: C0238281
Disease: Middle Cerebral Artery Syndrome
Middle Cerebral Artery Syndrome 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0740376
Disease: Middle Cerebral Artery Thrombosis
Middle Cerebral Artery Thrombosis 		0.300 Biomarker disease CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		0.300 Biomarker disease CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		0.300 Biomarker disease CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751845
Disease: Middle Cerebral Artery Embolus
Middle Cerebral Artery Embolus 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751846
Disease: Left Middle Cerebral Artery Infarction
Left Middle Cerebral Artery Infarction 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751847
Disease: Embolic Infarction, Middle Cerebral Artery
Embolic Infarction, Middle Cerebral Artery 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751848
Disease: Thrombotic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0751849
Disease: Right Middle Cerebral Artery Infarction
Right Middle Cerebral Artery Infarction 		0.300 Biomarker phenotype CTD_human A catalytic antioxidant (AEOL 10150) attenuates expression of inflammatory genes in stroke. 12374626 2002
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.300 Biomarker disease MGD
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