Aliases: ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6, CMT2S.
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 |
|---|---|---|
| Charcot-Marie-Tooth Disease Axonal Type 2S | causative |
treatment: Personalised splice-correcting antisense oligonucleotide (preclinical)
|
| Distal Hereditary Motor Neuronopathy, Autosomal Recessive | untyped |
scoped to subtype: dSMA1
|
| Spinal Muscular Atrophy with Respiratory Distress Type 1 | untyped |
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 |
|---|---|---|---|
| hereditary peripheral neuropathy MONDO:0020127 | AR | Definitive 2023-09-06 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.