TYMP

thymidine phosphorylase

2 disorders 2 causative 22q13.33 gene with protein product

HGNC:3148 Monarch NCBI Gene 1890 ENSG00000025708 UniProt P19971 OMIM 131222

Previous symbols: MNGIE, ECGF1.

Normal function · from ai-gene-review (P19971, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

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
Chronic Intestinal Pseudoobstruction	causative germline	mechanism: Thymidine Phosphorylase Deficiency and Mitochondrial DNA Instability subtype: Mitochondrial scoped to subtype: Mitochondrial
Mitochondrial Neurogastrointestinal Encephalomyopathy	causative	mechanism: Thymidine Phosphorylase Deficiency

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
mitochondrial disease MONDO:0044970	AR	Definitive 2023-10-02	no dismech entry

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