Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII
0.710 GeneticVariation disease BEFREE We report for the first time that the novel pathogenic mutations in BMP1 can lead to the extremely rare OI type XIII, which exhibit unique characters of high bone mass, but with impaired bone microstructure and comprised bone strength. 30408480 2019
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII
0.710 Biomarker disease GENOMICS_ENGLAND Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development. 28513615 2017
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII
0.710 GeneticVariation disease UNIPROT Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. 25402547 2015
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII
0.710 GeneticVariation disease UNIPROT Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 22052668 2012
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII
0.710 GeneticVariation disease UNIPROT Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. 22482805 2012
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII
0.710 CausalMutation disease CLINVAR
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII
0.710 Biomarker disease CTD_human