Previous symbols: NKX2A, BCH, TITF1. Aliases: TTF-1, TTF1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Congenital Hypothyroidism | causative |
mechanism: Thyroid Gland Dysgenesis
computational model: Minimal Hypothalamic-Pituitary-Thyroid Feedback Model
scoped to subtype: Permanent Primary
|
| Familial Nonmedullary Thyroid Carcinoma | susceptibility germline |
mechanism: Inherited Non-Syndromic Susceptibility in Thyroid Follicular Cells; Perturbed Thyroid Transcription Factor and Growth-Regulatory Signaling
|
| BRAF V600E-Mutant Non-Small Cell Lung Cancer | no genetic record |
mechanism: Cooperating Tumor-Suppressor and Lineage-State Alterations
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction MONDO:0100520 | AD | Definitive 2023-07-27 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.