NDP

norrin cystine knot growth factor NDP

2 disorders 1 causative 1 untyped Xp11.3 gene with protein product

HGNC:7678 Monarch NCBI Gene 4693 ENSG00000124479 UniProt Q00604 OMIM 300658

Previous symbols: EVR2. Aliases: norrin.

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
Familial Exudative Vitreoretinopathy	causative	mechanism: Impaired Norrin/beta-catenin signaling in retinal endothelium subtype: NDP-FEVR scoped to subtype: NDP-FEVR
NDP-Related Vitreoretinopathy	untyped

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
Norrie disease MONDO:0010691	XL	Definitive 2018-03-21	NDP-Related Vitreoretinopathy untyped

Mechanism modules · computed from kb/

norrin_fzd4_retinal_vascular_development via Familial Exudative Vitreoretinopathy

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