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 |
|---|---|---|
| Facioscapulohumeral Muscular Dystrophy | causative germline |
mechanism: D4Z4 Epigenetic Derepression; DNMT3B-Dependent D4Z4 Methylation Failure
subtype: FSHD2; FSHD4
animal model: D4Z4-2.5/Dnmt3bMommeD14 transgenic mouse
scoped to subtype: FSHD4
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome | causative |
mechanism: ICF Gene Network Disruption
subtype: ICF1
scoped to subtype: ICF1
|
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 |
|---|---|---|---|
| immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0009454 | AR | Definitive 2023-04-16 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.