Genopathy
Gene-Disorder Association · Article
Gene
GNAI1
G Protein Subunit Alpha I1
Disorder
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
First reported 1989
Supporting publications 3
Key publication · disorder Clinico-neurological investigations in the fra(X) form of mental retardation.Journal of neurology · 1989
Manually curated
Association Review

In brief

The association between GNAI1 (G Protein Subunit Alpha I1) and Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 24
Symptoms 77
Compounds 0
Trials 0
Publications 3
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

3 sources

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

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03
GNAI1

The gene

2 source summaries

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

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04
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities

The disorder

5 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

24 clinical features

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

24 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

3 publications

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

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09
Provenance

References & sources

9 references

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

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