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
Chondrosarcoma somatic driver somatic
mechanism: IDH1/IDH2 Neomorphic Enzyme Activity
subtype: Conventional; Dedifferentiated; Primary Central
scoped to subtype: Primary Central
Oligoastrocytoma somatic driver somatic
Acute Myeloid Leukemia, IDH-Mutated untyped
Somatic Oncogenic Mutation
D-2-Hydroxyglutaric Aciduria untyped
subtype: D-2-HGA type II
Diffuse Astrocytoma untyped
Somatic Mutation
Glioma untyped
Somatic Missense Mutation
IDH-Mutant and 1p/19q-Codeleted Oligodendroglioma untyped
Somatic Mutation
IDH-Mutant Astrocytoma untyped
Somatic Mutation
IDH-Mutant Cholangiocarcinoma untyped
Somatic Neomorphic Mutation
Peripheral T-Cell Lymphoma untyped
Recurrent Somatic Mutation
scoped to subtype: TFH Angioimmunoblastic-Type
Sinonasal Undifferentiated Carcinoma untyped
Somatic hotspot mutation
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
mitochondrial disease MONDO:0044970 AD Definitive
2023-01-30
no dismech entry

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