Previous symbols: DDX3. Aliases: DBX, HLP2, DDX14, CAP-Rf.
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 |
|---|---|---|
| Aggressive NK-cell Leukemia | somatic driver somatic |
mechanism: DDX3X Alteration
|
| Intellectual Disability X-linked 102 | causative germline loss of functionpartial loss of function |
mechanism: DDX3X RNA Helicase Deficiency; Hemizygous Partial Loss of DDX3X Function in Males; Partial Escape from X-Chromosome Inactivation
subtype: Female heterozygous; Male hemizygous
|
| Salivary Gland Polymorphous Adenocarcinoma | cooperating somatic |
mechanism: PRKD Family Gene Rearrangement
|
| Klinefelter Syndrome |
untyped
Risk Factor
|
|
| Medulloblastoma, WNT-Activated |
untyped
Somatic Mutation
|
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 |
|---|---|---|---|
| X-linked syndromic intellectual disability MONDO:0020119 | XL | Definitive 2020-05-05 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.