Genopathy
Gene-Disorder Association · Article
Gene
FMR1-AS1
FMR1 Antisense RNA 1
Disorder
Fragile X Syndrome
First reported 1969
Key publication · disorder A marker X chromosome.American journal of human genetics · 1969
Manually curated
Association Review

In brief

The association between FMR1-AS1 (FMR1 Antisense RNA 1) and Fragile X Syndrome is a manually-curated gene–disease association, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 59
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

1 source

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

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03
FMR1-AS1

The gene

1 source summary

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

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04
Fragile X Syndrome

The disorder

14 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

44 clinical features

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

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06
Provenance

References & sources

7 references

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

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