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 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: 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 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 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
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 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: 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 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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		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
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: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.300 GeneticVariation disease BEFREE Mutations in Hsp47 are causally associated with osteogenesis imperfecta. 27838364 2017
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). 22021425 2012
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). 22021425 2012
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
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