Genopathy
Gene-Disorder Association · Article
Gene
PAX8-AS1
PAX8 Antisense RNA 1
Disorder
Hypothyroidism, Congenital, Nongoitrous, 2
First reported 1950
Supporting publications 5
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
Association Review

In brief

The association between PAX8-AS1 (PAX8 Antisense RNA 1) and Hypothyroidism, Congenital, Nongoitrous, 2 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 44
Symptoms 61
Compounds 0
Trials 0
Publications 5
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

1 source

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

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03
PAX8-AS1

The gene

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

44 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
Literature

Reading

5 publications

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

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09
Provenance

References & sources

11 references

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

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