Genopathy
Gene-Disorder Association · Article
Gene
BMPR1A
Bone Morphogenetic Protein Receptor Type 1A
Disorder
Inherited Cancer-Predisposing Syndrome
First reported 2019
Supporting publications 28
Key publication · gene–disorder Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.Computational biology and chemistry · 2019
Key publication · disorder New information concerning the Irish giant.Journal of neurosurgery · 1965
Manually curated
Association Review

In brief

The association between BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) and Inherited Cancer-Predisposing Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 1,389
Symptoms 0
Compounds 0
Trials 0
Publications 28
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

2 sources

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

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03
BMPR1A

The gene

1 source summary

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

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04
Inherited Cancer-Predisposing Syndrome

The disorder

3 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

1,389 clinical variants

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

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06
Literature

Reading

28 publications

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

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07
Provenance

References & sources

11 references

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

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