Genopathy
Gene-Disorder Association · Article
Gene
GP1BA
Glycoprotein Ib Platelet Subunit Alpha
Disorder
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
First reported 1992
Supporting publications 14
Key publication · disorder Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.Blood · 1992
Manually curated
Association Review

In brief

The association between GP1BA (Glycoprotein Ib Platelet Subunit Alpha) and Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 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 48
Symptoms 26
Compounds 0
Trials 0
Publications 14
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
GP1BA

The gene

1 source summary

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

Request access
04
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

15 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

48 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

14 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access