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 |
|---|---|---|
| Schuurs-Hoeijmakers Syndrome | causative de novo gain of function |
mechanism: Enhanced PACS1-HDAC6 Interaction and HDAC6 Hyperactivity; PACS1 Arg203 Gain-of-Function Substitution
treatment: PACS1-Targeting Antisense Oligonucleotide (preclinical)
|
| Neurooculocardiogenitourinary Syndrome | no genetic record |
mechanism: Altered WDR37-PACS1-PACS2 Complex Function
|
Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.