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.

DisorderRelationshipWhere the gene appears
Amyotrophic Lateral Sclerosis causative
mechanism: RNA-Binding Protein Mislocalization and Stress Granule Dysfunction
subtype: ALS6
treatment: Jacifusen (ION363)
scoped to subtype: ALS6
Essential Tremor susceptibility
Juvenile Amyotrophic Lateral Sclerosis causative de novo
mechanism: FUS Cytoplasmic Mislocalization and Basophilic Inclusion Formation
subtype: ALS6-JALS
scoped to subtype: ALS6-JALS
Liposarcoma somatic driver somatic
scoped to subtype: MLPS
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 diseaseMOIClassificationdismech entry
amyotrophic lateral sclerosis type 6 MONDO:0011951 AD Definitive
2021-10-12

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