Genopathy
Gene-Disorder Association · Article
Gene
BMPR1A
Bone Morphogenetic Protein Receptor Type 1A
Disorder
Juvenile Polyposis Syndrome
First reported 2001
Supporting publications 34
Key publication · gene–disorder Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.Nature genetics · 2001
Key publication · disorder JUVENILE POLYPOSIS COLI.Proceedings of the Royal Society of Medicine · 1964
Manually curated
Association Review

In brief

The association between BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) and Juvenile Polyposis Syndrome is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 1,863
Symptoms 65
Compounds 0
Trials 0
Publications 34
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
BMPR1A

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Juvenile Polyposis Syndrome

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

59 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

1,863 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

34 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

16 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access