Previous symbols: CMT2D, GARS. Aliases: GlyRS, DSMAV, SMAD1.
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 |
|---|---|---|
| Antisynthetase Syndrome |
untyped
Autoantigen
|
mechanism: Loss of Tolerance to Aminoacyl-tRNA Synthetases
|
| Charcot-Marie-Tooth Disease Type 2 |
untyped
Causative
|
mechanism: Impaired Neurotrophin Signaling Endosome Axonal Transport
subtype: CMT2D
scoped to subtype: CMT2D
|
| Distal Hereditary Motor Neuronopathy, Autosomal Dominant | untyped |
mechanism: Motor Neuron and Distal Axon Gene Defect
subtype: dHMN5-GARS
scoped to subtype: dHMN5-GARS
|
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 type 2D MONDO:0011091 | AD | Definitive 2023-01-10 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.