rs398122891, BMP1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
OSTEOGENESIS IMPERFECTA, TYPE XIII
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
0.800 GeneticVariation UNIPROT Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. 25402547 2015
OSTEOGENESIS IMPERFECTA, TYPE XIII
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
0.800 GeneticVariation UNIPROT Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. 22482805 2012
OSTEOGENESIS IMPERFECTA, TYPE XIII
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
0.800 GeneticVariation UNIPROT Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 22052668 2012
OSTEOGENESIS IMPERFECTA, TYPE XIII
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
0.800 CausalMutation CLINVAR