BMP1, bone morphogenetic protein 1, 649

N. diseases: 121; N. variants: 17
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs318240762
rs318240762
Entrez Id: 649
Gene Symbol: BMP1
BMP1
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
dbSNP: rs398122891
rs398122891
Entrez Id: 649
Gene Symbol: BMP1
BMP1
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
dbSNP: rs318240762
rs318240762
Entrez Id: 649
Gene Symbol: BMP1
BMP1
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
dbSNP: rs318240762
rs318240762
Entrez Id: 649
Gene Symbol: BMP1
BMP1
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
dbSNP: rs398122891
rs398122891
Entrez Id: 649
Gene Symbol: BMP1
BMP1
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
dbSNP: rs398122891
rs398122891
Entrez Id: 649
Gene Symbol: BMP1
BMP1
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
dbSNP: rs318240762
rs318240762
Entrez Id: 649
Gene Symbol: BMP1
BMP1
CUI: C3553887
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XIII 		C 0.800 CausalMutation CLINVAR
dbSNP: rs398122891
rs398122891
Entrez Id: 649
Gene Symbol: BMP1
BMP1
CUI: C3553887
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XIII 		G 0.800 CausalMutation CLINVAR
dbSNP: rs786205219
rs786205219
Entrez Id: 649
Gene Symbol: BMP1
BMP1
CUI: C3553887
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XIII 		G 0.800 CausalMutation CLINVAR
dbSNP: rs786205219
rs786205219
Entrez Id: 649
Gene Symbol: BMP1
BMP1
CUI: C3553887
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205217
rs786205217
Entrez Id: 649
Gene Symbol: BMP1
BMP1
CUI: C3553887
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XIII 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786205218
rs786205218
Entrez Id: 649
Gene Symbol: BMP1
BMP1
CUI: C3553887
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XIII 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786205220
rs786205220
Entrez Id: 649
Gene Symbol: BMP1
BMP1
CUI: C3553887
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XIII 		T 0.700 CausalMutation CLINVAR