DisGeNET - a database of gene-disease associations

BMP1, bone morphogenetic protein 1, 649

N. diseases: 121; N. variants: 17

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

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

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

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:

rs121917835

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.

15557112

2005

dbSNP:

rs121918559

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.

15557112

2005

dbSNP:

rs121917835

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.

15572558

2004

dbSNP:

rs121917835

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.

15293602

2004

dbSNP:

rs121917835

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

15039969

2004

dbSNP:

rs121918559

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

15039969

2004

dbSNP:

rs121918559

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.

15572558

2004

dbSNP:

rs121918559

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.

15293602

2004

dbSNP:

rs121917835

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

11991887

2002

dbSNP:

rs121918559

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

11991887

2002

dbSNP:

rs121917835

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918559

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs318240762

Entrez Id:	649
Gene Symbol:	BMP1

BMP1

CUI:	C3553887
Disease:

OSTEOGENESIS IMPERFECTA, TYPE XIII

0.800

CausalMutation

CLINVAR

dbSNP:

rs398122891

Entrez Id:	649
Gene Symbol:	BMP1

BMP1

CUI:	C3553887
Disease:

OSTEOGENESIS IMPERFECTA, TYPE XIII

0.800

CausalMutation

CLINVAR

dbSNP:

rs786205219

Entrez Id:	649
Gene Symbol:	BMP1

BMP1

CUI:	C3553887
Disease:

OSTEOGENESIS IMPERFECTA, TYPE XIII

0.800

CausalMutation

CLINVAR

dbSNP:

rs786205219

Entrez Id:	649
Gene Symbol:	BMP1

BMP1

CUI:	C3553887
Disease:

OSTEOGENESIS IMPERFECTA, TYPE XIII

0.800

GeneticVariation

UNIPROT

dbSNP:

rs6984210

Entrez Id:	649
Gene Symbol:	BMP1

BMP1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

29212778

2018

dbSNP:

rs73225842

Entrez Id:	649
Gene Symbol:	BMP1

BMP1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

29212778

2018

dbSNP:

rs34957318

Entrez Id:	649;6440
Gene Symbol:	BMP1;SFTPC

BMP1;SFTPC

CUI:	C1970470
Disease:

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)

0.700

GeneticVariation

UNIPROT

Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.

15557112

2005