Aliases: DMT1, CT154.
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 |
|---|---|---|
| 46,XY complete gonadal dysgenesis | causative germline |
mechanism: SRY-SOX9-SOX8-DMRT1 transcriptional network failure
subtype: DMRT1-related complete gonadal dysgenesis
|
| Central Nervous System Teratoma |
untyped
Somatic copy-number alteration in a malignant-feature iGTS case
somatic
|
mechanism: CNS Germ Cell Tumor Copy-Number Alteration
|
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 |
|---|---|---|---|
| spermatogenic failure MONDO:0004983 | AD | Definitive 2026-02-18 |
no dismech entry |
| 46 XY differences of sex development MONDO:0020040 | AD | Definitive 2026-03-18 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.