Genopathy
Gene-Disorder Association · Article
Gene
PIEZO1
Piezo Type Mechanosensitive Ion Channel Component 1 (Er Blood Group)
Disorder
Blood Group, Er
First reported 1982
Key publication · disorder A 'new' high frequency antigen Era.Transfusion · 1982
Manually curated
Association Review

In brief

The association between PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1 (Er Blood Group)) and Blood Group, Er is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis.

Sources 2
Clinical variants 0
Symptoms 4
Compounds 0
Trials 0
Publications 0
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
PIEZO1

The gene

1 source summary

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

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04
Blood Group, Er

The disorder

1 database identifier

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

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05
Phenotype

Clinical features

1 clinical feature

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

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06
Provenance

References & sources

3 references

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

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