NDP (norrin cystine knot growth factor NDP)

2012-05-01  

Identity

HGNC
LOCATION
Xp11.3
LOCUSID
ALIAS
EVR2,FEVR,ND
FUSION GENES

Other Information

Locus ID:

NCBI: 4693
MIM: 300658
HGNC: 7678
Ensembl: ENSG00000124479

Variants:

dbSNP: 4693
ClinVar: 4693
TCGA: ENSG00000124479
COSMIC: NDP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124479ENST00000642620Q00604
ENSG00000124479ENST00000647044Q00604

Expression (GTEx)

0
5
10
15
20
25
30
35
40

References

Pubmed IDYearTitleCitations
381468942024Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.1
385174292024Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.0
381468942024Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.1
385174292024Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.0
353615732023NDP-related retinopathies: clinical phenotype of female carriers.0
364531492023A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.2
353615732023NDP-related retinopathies: clinical phenotype of female carriers.0
364531492023A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.2
345827652022Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11.3
350220172022Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.2
350375172022Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.2
356561672022Ocular manifestations of Chinese patients with copy number variants in the NDP gene.1
365771252022Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.0
370896972022Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.0
345827652022Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11.3

Citation

Dessen P

NDP (norrin cystine knot growth factor NDP)

Atlas Genet Cytogenet Oncol Haematol. 2012-05-01

Online version: http://atlasgeneticsoncology.org/gene/52704/ndp-(norrin-cystine-knot-growth-factor-ndp)