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 |
|---|---|---|
| Adrenal Cortex Adenoma | somatic driver somatic |
mechanism: Zona Glomerulosa Ion Channel and Pump Driver Mutation
subtype: Aldosterone-Producing
scoped to subtype: Aldosterone-Producing
|
| Charcot-Marie-Tooth Disease Type 2 | causative |
mechanism: Axonal Sodium-Potassium ATPase Dysfunction
subtype: CMT2DD
scoped to subtype: CMT2DD
|
| Primary Aldosteronism | somatic driver somatic |
mechanism: Somatic Gain-of-Function Mutation in a Zona Glomerulosa Ion Channel or Pump
subtype: APA
scoped to subtype: APA
|
| Digitalis Poisoning | no genetic record |
mechanism: Sodium-Potassium ATPase Inhibition
|
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, axonal, type 2DD MONDO:0054833 | AD | Definitive 2026-07-29 |
Charcot-Marie-Tooth Disease Type 2
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.