SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Disease: OSTEOGENESIS IMPERFECTA, TYPE X ×
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: 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: 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 Biomarker disease CTD_human
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 Biomarker disease MGD