Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4693
MIM: 300658
HGNC: 7678
Ensembl: ENSG00000124479
Variants:
dbSNP: 4693
ClinVar: 4693
TCGA: ENSG00000124479
COSMIC: NDP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000124479 | ENST00000642620 | Q00604 |
| ENSG00000124479 | ENST00000647044 | Q00604 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38146894 | 2024 | Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree. | 1 |
| 38517429 | 2024 | Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation. | 0 |
| 38146894 | 2024 | Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree. | 1 |
| 38517429 | 2024 | Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation. | 0 |
| 35361573 | 2023 | NDP-related retinopathies: clinical phenotype of female carriers. | 0 |
| 36453149 | 2023 | A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy. | 2 |
| 35361573 | 2023 | NDP-related retinopathies: clinical phenotype of female carriers. | 0 |
| 36453149 | 2023 | A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy. | 2 |
| 34582765 | 2022 | Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11. | 3 |
| 35022017 | 2022 | Ocular phenotype and genetical analysis in patients with retinopathy of prematurity. | 2 |
| 35037517 | 2022 | Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy. | 2 |
| 35656167 | 2022 | Ocular manifestations of Chinese patients with copy number variants in the NDP gene. | 1 |
| 36577125 | 2022 | Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease. | 0 |
| 37089697 | 2022 | Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR. | 0 |
| 34582765 | 2022 | Severe 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
