NEDD4L

NEDD4 like E3 ubiquitin protein ligase

2 disorders 1 untyped 1 causative 18q21.31 gene with protein product

HGNC:7728 Monarch NCBI Gene 23327 ENSG00000049759 UniProt Q96PU5 OMIM 606384

Aliases: KIAA0439, RSP5, NEDD4-2.

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
Periventricular Nodular Heterotopia 7	causative germline CLINGEN: definitive	mechanism: Aberrant NEDD4L Ubiquitin Ligase Activity
Periventricular Nodular Heterotopia	untyped Causative	mechanism: NEDD4L AKT-mTOR Dysregulation

ClinGen gene–disease validity · snapshot 2026-10-24 · 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
periventricular nodular heterotopia 7 MONDO:0014966	AD	Definitive 2021-11-30	Periventricular Nodular Heterotopia 7 causative

Mechanism modules · computed from kb/

apical_neuroependyma_integrity_failure via Periventricular Nodular Heterotopia named in the module itself

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.