Curated summary · agent-written · kb/genes/curated/hgnc_7501.md

All 13 claims checked against the KB draft

MT-TW across dismech

MT-TW (mitochondrially encoded tRNA-Trp (UGA/G)) is named by 1 disorder entry. It is a mitochondrial-DNA-encoded transfer RNA for tryptophan.

Normal function

The pinned ai-gene-review snapshot that the ingest layer reads has no core functions for MT-TW (0 terms). An upstream review of the gene is being added or updated.

Causative records

One entry types MT-TW as causative: MELAS Syndrome. In MELAS Syndrome the gene sits on the node Non-MT-TL1 mitochondrial tRNA dysfunction, and the entry records the variants as germline. The KB's mechanism annotations for MT-TW name the process mitochondrial translation.

Where the layers disagree

ClinGen classifies MT-TW for 2 diseases. The ClinGen disease with no matching dismech entry is mitochondrial disease. ClinGen rates the gene limited for Leigh syndrome. The entries ClinGen classifies it for whose own records do not type it are . Because the pinned ai-gene-review snapshot has no core functions for the gene, the KB and ai-gene-review currently share 0 GO process terms.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

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
MELAS Syndrome	causative germline	mechanism: Non-MT-TL1 mitochondrial tRNA dysfunction

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
Leigh syndrome MONDO:0009723	MT	Limited 2021-06-28	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
mitochondrial disease MONDO:0044970	MT	Definitive 2023-05-03	no dismech entry