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NDP - norrin cystine knot growth factor NDP
- Synonym(s) : norrin
- Previous symbols and names : EVR2, Norrie disease (pseudoglioma), exudative vitreoretinopathy 2 (X-linked)
- Type : gene with protein product
- Chromosomal location : Xp11.3
- OMIM: 300658
- HGNC: 7678
- UniProtKB: Q00604
- Genatlas: NDP
- Ensembl: ENSG00000124479
- IUPHAR-DB: -
- Reactome: Q00604
- LOVD: NDP
Diseases list
- Disease-causing germline mutation(s) in Familial exudative vitreoretinopathy
ORPHA:891 
- Disease-causing germline mutation(s) in Persistent hyperplastic primary vitreous
ORPHA:91495 - Disease-causing germline mutation(s) (loss of function) in Norrie disease
ORPHA:649 - Major susceptibility factor in Retinopathy of prematurity
ORPHA:90050 - Candidate gene tested in Coats disease
ORPHA:190
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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