Previous symbols: TNRC21, MLL2. Aliases: ALR, MLL4, CAGL114.
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 |
|---|---|---|
| Cold Agglutinin Disease | somatic driver somatic |
mechanism: Somatic KMT2D and CARD11 Mutation in the CAD B-Cell Clone
|
| Congenital Heart Disease | causative |
mechanism: Developmental Gene Dosage Disruption
|
| Thymic Neuroendocrine Carcinoma | somatic driver somatic |
mechanism: Chromatin Regulator Loss
|
| Adult Granulosa Cell Tumor of Ovary |
untyped
Recurrent secondary loss-of-function mutations, found in about 10% of tumors, and reported as a driver in rare FOXL2-wildtype tumors with typical AGCT morphology.
somatic
|
|
| Fanconi_Anemia |
untyped
Disease Modifier
|
|
| Follicular Lymphoma |
untyped
Founding Mutation
|
|
| Kabuki Syndrome |
untyped
Causative
|
mechanism: Chromatin dysregulation from KMT2D and KDM6A haploinsufficiency
subtype: KMT2D-related Kabuki syndrome
|
| Transitional Cell Carcinoma | untyped somatic |
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 |
|---|---|---|---|
| Kabuki syndrome 1 MONDO:0007843 | AD | Definitive 2025-08-14 |
Kabuki Syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.