TERC

telomerase RNA component

3 disorders 2 causative 1 untyped 3q26.2 RNA, long non-coding

HGNC:11727 Monarch NCBI Gene 7012 ENSG00000270141 OMIM 602322

Aliases: TR, hTR, TRC3, SCARNA19, TER.

In the knowledge base · computed from kb/ at build time

Disorders

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
Dyskeratosis Congenita	causative germline	mechanism: Impaired Telomere Maintenance subtype: TERC scoped to subtype: TERC
Idiopathic Pulmonary Fibrosis	causative	mechanism: Alveolar epithelial telomere dysfunction
Inherited Aplastic Anemia	untyped Telomerase RNA component, mutated in autosomal dominant DC germline	scoped to subtype: Dyskeratosis Congenita

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
dyskeratosis congenita, autosomal dominant 1 MONDO:0007485	AD	Definitive 2024-11-25	Dyskeratosis Congenita causative

Mechanism modules · computed from kb/

telomere_attrition via Idiopathic Pulmonary Fibrosis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.