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
Classic Hodgkin Lymphoma somatic driver somatic
mechanism: Mutation-Driven JAK/STAT Activation
Atopic Dermatitis untyped
Associated
mechanism: Type 2 Immune Response
Solitary Fibrous Tumor untyped somatic
STAT6 Gain-of-Function Disease untyped
autosomal dominant causal gain-of-function variant
mechanism: STAT6 gain-of-function variant
Asthma no genetic record
mechanism: Type 2 Immune Response / Th2 Signaling
Hodgkin Lymphoma no genetic record somatic
mechanism: Mutation-Driven JAK/STAT Activation (Classic HL)
subtype: Classic HL
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
hyper-IgE syndrome 6, autosomal dominant, with recurrent infections MONDO:0957807 AD Strong
2024-10-08
Mechanism modules · computed from kb/

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