DisGeNET - a database of gene-disease associations

BMPR1A, bone morphogenetic protein receptor type 1A, 657

N. diseases: 203; N. variants: 102

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:

rs1554891331

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

GAA

0.700

CausalMutation

CLINVAR

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

28944238

2017

dbSNP:

rs1057517610

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

BMPR1A mutations in juvenile polyposis affect cellular localization.

23433720

2013

dbSNP:

rs1554886816

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

CausalMutation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs1554888310

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

BMPR1A mutations in juvenile polyposis affect cellular localization.

23433720

2013

dbSNP:

rs199476086

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

BMPR1A mutations in juvenile polyposis affect cellular localization.

23433720

2013

dbSNP:

rs199476087

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs587782682

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs587782682

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

CausalMutation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs587783038

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

GeneticVariation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs786201038

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

CausalMutation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs786201038

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs786201040

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

23399955

2013

dbSNP:

rs786203157

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

GeneticVariation

CLINVAR

BMPR1A mutations in juvenile polyposis affect cellular localization.

23433720

2013

dbSNP:

rs1564673999

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

CausalMutation

CLINVAR

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

22067610

2012

dbSNP:

rs199476087

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.

22799562

2012

dbSNP:

rs1564673999

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

CausalMutation

CLINVAR

SP1 regulates the transcription of BMPR1A.

21872883

2011

dbSNP:

rs1564673999

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

CausalMutation

CLINVAR

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.

20843829

2010

dbSNP:

rs587783038

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

GeneticVariation

CLINVAR

Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

19438883

2010

dbSNP:

rs1057517610

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

18823382

2009

dbSNP:

rs1554888310

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

18823382

2009

dbSNP:

rs587782400

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

CausalMutation

CLINVAR

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

18823382

2009

dbSNP:

rs587783038

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

GeneticVariation

CLINVAR

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

18823382

2009

dbSNP:

rs730881431

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

18823382

2009

dbSNP:

rs786203157

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0345893
Disease:

Juvenile polyposis syndrome

0.700

GeneticVariation

CLINVAR

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

18823382

2009

dbSNP:

rs1131691182

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

18262054

2008