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
mechanism: EPOR/JAK2/STAT5 Signaling Amplification
Acute Megakaryoblastic Leukemia biomarker somatic
mechanism: Adult Adverse Genomic Landscape and Therapy Resistance
scoped to subtype: Adult AMKL
Classic Hodgkin Lymphoma somatic driver somatic
mechanism: Mutation-Driven JAK/STAT Activation
High Altitude Pulmonary Edema susceptibility
Immunodeficiency 118 modifier germline
mechanism: Reduced JAK2 Protein
Pyoderma Gangrenosum susceptibility
Budd-Chiari Syndrome untyped
Somatic prothrombotic risk factor
mechanism: Systemic Prothrombotic Predisposition
Essential Thrombocythemia untyped
Somatic Activating Mutations
Monkeypox untyped
Downregulated during infection
Myeloproliferative Neoplasm, Unclassifiable untyped
Somatic activating variants
Polycythemia Vera untyped
Somatic Activating Mutations
Primary Cutaneous Aggressive Epidermotropic CD8+ T-cell Lymphoma untyped
Recurrent somatic driver event
somatic
mechanism: JAK2-SH2B3 Axis Deregulation
Primary Myelofibrosis untyped
Somatic Activating Mutations
Hodgkin Lymphoma no genetic record somatic
mechanism: Mutation-Driven JAK/STAT Activation (Classic HL)
subtype: Classic HL
Mechanism modules · computed from kb/

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