MARS1 - 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
Charcot-Marie-Tooth Disease Type 2	causative	mechanism: Aminoacyl-tRNA Synthetase Loss of Function subtype: CMT2U scoped to subtype: CMT2U
Trichothiodystrophy	causative germline	mechanism: Cytosolic Aminoacyl-tRNA Synthetase Loss of Function; Reduced Cognate tRNA Charging subtype: Non-photosensitive TTD; TTD9 (MARS1) scoped to subtype: Non-photosensitive TTD
Complex Hereditary Spastic Paraplegia	untyped	mechanism: Pleiotropic SPG-Protein Dysfunction Beyond the Corticospinal Tract subtype: SPG70 scoped to subtype: SPG70

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
Charcot-Marie-Tooth disease MONDO:0015626	AD	Limited 2026-08-08	Charcot-Marie-Tooth Disease not named

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