Aliases: NF-H, NFH.
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 |
untyped
Pathogenic Variants
|
mechanism: Axonal Transport Dysfunction
|
| Charcot-Marie-Tooth Disease Type 2 |
untyped
Causative
|
mechanism: Neurofilament Assembly Disruption
subtype: CMT2CC
scoped to subtype: CMT2CC
|
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 MONDO:0004976 | AD | Limited 2023-03-23 |
Amyotrophic Lateral Sclerosis
untyped
|
| Charcot-Marie-Tooth disease axonal type 2CC MONDO:0014836 | AD | Definitive 2020-10-05 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.