Previous symbols: KIAA0274. Aliases: SAC3, hSac3, dJ249I4.1, ALS11, CMT4J.
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 | risk factor |
mechanism: Vesicular and Endolysosomal Trafficking Failure
subtype: ALS11
scoped to subtype: ALS11
|
| Yunis-Varon Syndrome | causative germline loss of function |
mechanism: Biallelic FIG4 Loss of Function
|
| Charcot-Marie-Tooth Disease Type 4 |
untyped
Causal
|
mechanism: Endosome-Lysosome Trafficking Defect
subtype: CMT4J
scoped to subtype: CMT4J
|
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 11 MONDO:0012945 | AD | Limited 2022-08-09 |
Amyotrophic Lateral Sclerosis
risk factor
|
| Charcot-Marie-Tooth disease MONDO:0015626 | AR | Definitive 2025-01-08 |
Charcot-Marie-Tooth Disease
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.