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 |
|---|---|---|
| Amyotrophic Lateral Sclerosis | causative |
mechanism: Axonal Transport Dysfunction
subtype: ALS18
scoped to subtype: ALS18
|
| Paget Disease of Bone | causative |
mechanism: Giant Hypernucleated Hyperactive Osteoclasts
|
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 |
|---|---|---|---|
| amyotrophic lateral sclerosis type 18 MONDO:0013891 | AD | Definitive 2021-04-22 |
Amyotrophic Lateral Sclerosis
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.