Association Review
In brief
The association between PAX8 (Paired Box 8) and Syndromic Hypothyroidism is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
0
Compounds
0
Trials
0
Publications
0
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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2 source summaries
A gene summary alongside the source descriptions it was distilled from.
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04
Syndromic Hypothyroidism
The disorder
3 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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05
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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06
Provenance
References & sources
4 references
Every source and publication cited across this dossier, as one numbered reference list.
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