Genopathy
Gene-Disorder Association · Article
Gene
NKX2-1
NK2 Homeobox 1
Disorder
Hypothyroidism, Congenital, Nongoitrous, 2
First reported 1997
Supporting publications 8
Key publication · gene–disorder Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis.Thyroid : official journal of the American Thyroid Association · 1997
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 NKX2-1 (NK2 Homeobox 1) and Hypothyroidism, Congenital, Nongoitrous, 2 is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 61
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.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
NKX2-1

The gene

1 source summary

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

Request access
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).

Request access
05
Phenotype

Clinical features

47 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Literature

Reading

8 publications

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

Request access
08
Provenance

References & sources

14 references

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

Request access