Genopathy
Gene-Disorder Association · Article
Gene
OR2J3
Olfactory Receptor Family 2 Subfamily J Member 3
Disorder
C3hex, Ability To Smell
First reported 2012
Key publication · gene–disorder Genetic variation in the odorant receptor OR2J3 is associated with the ability to detect the "grassy" smelling odor, cis-3-hexen-1-ol.Chemical senses · 2012
Key publication · disorder Sensory distinction between H-2b and H-2bm1 mutant mice.Proceedings of the National Academy of Sciences of the United States of America · 1983
Manually curated
Association Review

In brief

The association between OR2J3 (Olfactory Receptor Family 2 Subfamily J Member 3) and C3hex, Ability To Smell 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 2
Symptoms 1
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
OR2J3

The gene

1 source summary

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

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04
C3hex, Ability To Smell

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
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
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

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07
Provenance

References & sources

4 references

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

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