Genopathy
Gene-Disorder Association · Article
Gene
GLIS3
GLIS Family Zinc Finger 3
Disorder
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
First reported 1978
Supporting publications 3
Key publication · disorder Amplification of the respiratory NADH dehydrogenase of Escherichia coli by gene cloning.Gene · 1978
Manually curated
Association Review

In brief

The association between GLIS3 (GLIS Family Zinc Finger 3) and Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 445
Symptoms 70
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

4 sources

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

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03
GLIS3

The gene

1 source summary

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

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04
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism

The disorder

11 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

37 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

445 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

2 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

3 publications

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

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10
Provenance

References & sources

11 references

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

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