NPM1

nucleophosmin 1

2 disorders 1 untyped 1 somatic driver 5q35.1 gene with protein product

HGNC:7910 Monarch NCBI Gene 4869 ENSG00000181163 UniProt P06748 OMIM 164040

Aliases: B23, NPM.

Normal function · from ai-gene-review (P06748, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

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.

Disorder	Relationship	Where the gene appears
Anaplastic Large Cell Lymphoma	somatic driver somatic	mechanism: Constitutive ALK Fusion Kinase Activity animal model: Mus musculus scoped to subtype: Systemic ALK-Positive
Acute Myeloid Leukemia, NPM1-Mutated	untyped Somatic Driver 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 disease	MOI	Classification	dismech entry
bone marrow failure syndrome MONDO:0000159	AD	Limited 2025-04-08	no dismech entry

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