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 |
|---|---|---|
| SOX11-Related Neurodevelopmental Disorder | causative de novo |
mechanism: Heterozygous SOX11 Loss of Function
|
| Coffin-Siris syndrome |
untyped
Causative
|
mechanism: Limb skeletal patterning defect from SOXC and BAF dysfunction
subtype: SOX11
scoped to subtype: SOX11
|
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 |
|---|---|---|---|
| SOX11-related complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100626 | AD | Definitive 2025-05-20 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.