MT-ND4 - dismech genes

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
Leber Hereditary Optic Neuropathy	causative germline	mechanism: Complex I Subunit Missense Mutation subtype: MT-ND4 variant: m.11778G>A scoped to subtype: MT-ND4
Leber Optic Atrophy and Dystonia	no genetic record	mechanism: MT-ND6 m.14459G>A Missense Mutation subtype: Other Complex I Loci

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	Definitive 2021-05-17	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
mitochondrial disease MONDO:0044970	MT	Definitive 2023-03-06	no dismech entry

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