Genopathy
Gene-Disorder Association · Article
Gene
C9orf72
C9orf72-SMCR8 Complex Subunit
Disorder
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
First reported 1953
Supporting publications 11
Key publication · disorder Progressive bulbar paralysis showing heredofamilial incidence and intellectual impairment.A.M.A. archives of neurology and psychiatry · 1953
Manually curated
Association Review

In brief

The association between C9orf72 (C9orf72-SMCR8 Complex Subunit) and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 89
Symptoms 58
Compounds 0
Trials 0
Publications 11
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

4 sources

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

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03
C9orf72

The gene

1 source summary

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

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04
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

The disorder

16 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

43 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

89 clinical variants

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

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07
Population genetics

GWAS signals

3 GWAS phenotypes

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

11 publications

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

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10
Provenance

References & sources

17 references

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

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