Genopathy
Gene-Disorder Association · Article
Gene
DICER1
Dicer 1, Ribonuclease III
Disorder
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
First reported 1997
Supporting publications 8
Key publication · gene–disorder Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.American journal of human genetics · 1997
Key publication · disorder Simple goiter in Colombia.The Journal of clinical endocrinology and metabolism · 1950
Manually curated
Association Review

In brief

The association between DICER1 (Dicer 1, Ribonuclease III) and Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, causative variation, and a susceptibility locus.

Sources 5
Clinical variants 122
Symptoms 18
Compounds 0
Trials 0
Publications 8
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

5 sources

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

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03
DICER1

The gene

1 source summary

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

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04
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors

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

16 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

122 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

8 publications

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

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09
Provenance

References & sources

16 references

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

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