Genopathy
Gene-Disorder Association · Article
Gene
PAX8
Paired Box 8
Disorder
Hypothyroidism, Congenital, Nongoitrous, 2
First reported 1998
Supporting publications 15
Key publication · gene–disorder PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.Nature genetics · 1998
Key publication · disorder An appraisal of the radioiodine tracer technic as a clinical procedure in the diagnosis of the thyroid disorders; uptake measurement directly over the gland and a note on the use of thyrotropin (T.S.H.).The Journal of clinical endocrinology and metabolism · 1950
Manually curated
Association Review

In brief

The association between PAX8 (Paired Box 8) and Hypothyroidism, Congenital, Nongoitrous, 2 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 124
Symptoms 61
Compounds 0
Trials 0
Publications 15
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
PAX8

The gene

2 source summaries

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

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04
Hypothyroidism, Congenital, Nongoitrous, 2

The disorder

22 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

47 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

124 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

1 GWAS phenotype

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

15 publications

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

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10
Provenance

References & sources

18 references

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

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