Aliases: HUNKI, MCAP, CAP, HUNK1, FSHRG4.
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 |
|---|---|---|
| Blastic Plasmacytoid Dendritic Cell Neoplasm | no genetic record |
mechanism: TCF4-Dependent Super-Enhancer Network Addiction
|
| Cornelia de Lange syndrome | no genetic record |
mechanism: Cohesin pathway gene disruption
|
| SPOP-Related Neurodevelopmental Disorder | no genetic record |
mechanism: BET Protein Accumulation; Reduced BET Protein Abundance
|
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 |
|---|---|---|---|
| syndromic intellectual disability MONDO:0000508 | AD | Definitive 2025-08-08 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.