In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Acute Erythroid Leukemia cooperating somatic
Acute Megakaryoblastic Leukemia biomarker somatic
mechanism: Adult Adverse Genomic Landscape and Therapy Resistance
scoped to subtype: Adult AMKL
Aggressive NK-cell Leukemia unknown somaticunknown
mechanism: Epigenetic-Regulator Alterations
Blastic Plasmacytoid Dendritic Cell Neoplasm somatic driver somatic loss of function
mechanism: TET2 Loss in a Hematopoietic Precursor; UV-Selected Survival of TET2-Mutant pDC Precursors in Sun-Exposed Skin
Chronic Myelomonocytic Leukemia somatic driver somatic
Myelodysplastic Syndrome somatic driver somatic
Peripheral T-Cell Lymphoma untyped
Recurrent Somatic Mutation
scoped to subtype: TFH Angioimmunoblastic-Type
Polycythemia Vera untyped
Somatic Co-mutation
Primary Myelofibrosis untyped
Somatic Loss-of-Function Mutations
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 diseaseMOIClassificationdismech entry
pulmonary arterial hypertension MONDO:0015924 AD Moderate
2025-02-24

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.