HARS1 - 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
Autosomal dominant Charcot-Marie-Tooth disease type 2W	causative germline partial loss of function	mechanism: HARS1 Catalytic Domain Dysfunction
Usher Syndrome Type 3	disputed
Antisynthetase Syndrome	untyped Autoantigen	mechanism: HARS Immune-Complex Activation of Alveolar Monocyte-Macrophages; Loss of Tolerance to Aminoacyl-tRNA Synthetases animal model: Mus musculus

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
Usher syndrome type 3 MONDO:0016485	AR	Refuted 2018-02-27	Usher Syndrome Type 3 disputed

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