Details for: NDP

Gene ID: 4693

Symbol: NDP

Ensembl ID: ENSG00000124479

Description: norrin cystine knot growth factor NDP

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 20.8103
    Cell Significance Index: -9.8300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 3.4799
    Cell Significance Index: 55.8300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.7162
    Cell Significance Index: 5.5100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5835
    Cell Significance Index: 13.4800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.5196
    Cell Significance Index: 13.6600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4646
    Cell Significance Index: 11.2600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.3258
    Cell Significance Index: 5.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2473
    Cell Significance Index: 33.9600
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.2417
    Cell Significance Index: 1.4200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0607
    Cell Significance Index: 33.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0549
    Cell Significance Index: 11.0200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0193
    Cell Significance Index: 0.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0015
    Cell Significance Index: -1.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0047
    Cell Significance Index: -8.8900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0082
    Cell Significance Index: -15.1500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0088
    Cell Significance Index: -3.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0097
    Cell Significance Index: -7.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0099
    Cell Significance Index: -15.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0112
    Cell Significance Index: -15.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0131
    Cell Significance Index: -9.9500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0144
    Cell Significance Index: -0.9100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0151
    Cell Significance Index: -9.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0154
    Cell Significance Index: -6.8000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0166
    Cell Significance Index: -0.7200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0171
    Cell Significance Index: -9.6500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0253
    Cell Significance Index: -11.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0283
    Cell Significance Index: -8.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0383
    Cell Significance Index: -6.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0421
    Cell Significance Index: -7.1900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0488
    Cell Significance Index: -9.6900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0539
    Cell Significance Index: -3.0300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0619
    Cell Significance Index: -7.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0685
    Cell Significance Index: -9.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0727
    Cell Significance Index: -8.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0730
    Cell Significance Index: -8.9700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0790
    Cell Significance Index: -8.0700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0820
    Cell Significance Index: -5.8000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0878
    Cell Significance Index: -10.3500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0974
    Cell Significance Index: -12.5800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1128
    Cell Significance Index: -1.9500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1141
    Cell Significance Index: -1.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1217
    Cell Significance Index: -6.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1404
    Cell Significance Index: -9.4400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1413
    Cell Significance Index: -7.4200
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.1487
    Cell Significance Index: -2.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1503
    Cell Significance Index: -9.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1576
    Cell Significance Index: -6.9700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1689
    Cell Significance Index: -5.5300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1732
    Cell Significance Index: -12.9100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1736
    Cell Significance Index: -9.0400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1772
    Cell Significance Index: -6.7100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2018
    Cell Significance Index: -7.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2160
    Cell Significance Index: -10.1500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2179
    Cell Significance Index: -6.9400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2192
    Cell Significance Index: -10.2200
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.2385
    Cell Significance Index: -2.6700
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.2442
    Cell Significance Index: -2.3900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2632
    Cell Significance Index: -5.5100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.2703
    Cell Significance Index: -3.9300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2779
    Cell Significance Index: -10.2000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2783
    Cell Significance Index: -9.6700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2809
    Cell Significance Index: -14.2000
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.2905
    Cell Significance Index: -3.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2905
    Cell Significance Index: -8.2900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2941
    Cell Significance Index: -7.3400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3151
    Cell Significance Index: -6.9000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3208
    Cell Significance Index: -8.5800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3212
    Cell Significance Index: -9.4600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3531
    Cell Significance Index: -10.3700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3547
    Cell Significance Index: -14.5300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3577
    Cell Significance Index: -10.3100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3586
    Cell Significance Index: -9.6100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3721
    Cell Significance Index: -7.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3776
    Cell Significance Index: -6.3200
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.3793
    Cell Significance Index: -7.4700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3849
    Cell Significance Index: -10.2800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3878
    Cell Significance Index: -6.3900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3937
    Cell Significance Index: -9.8200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3958
    Cell Significance Index: -6.2800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.4007
    Cell Significance Index: -8.1500
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.4128
    Cell Significance Index: -4.7800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.4190
    Cell Significance Index: -10.6800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.4226
    Cell Significance Index: -10.5600
  • Cell Name: osteoclast (CL0000092)
    Fold Change: -0.4232
    Cell Significance Index: -4.3200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.4287
    Cell Significance Index: -7.3900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4339
    Cell Significance Index: -9.0600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4387
    Cell Significance Index: -10.5200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4411
    Cell Significance Index: -9.5300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4468
    Cell Significance Index: -9.5500
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.4515
    Cell Significance Index: -5.1400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4518
    Cell Significance Index: -12.9500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4533
    Cell Significance Index: -11.0600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4552
    Cell Significance Index: -5.3100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4599
    Cell Significance Index: -9.7600
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.4795
    Cell Significance Index: -6.8200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4811
    Cell Significance Index: -6.8900
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: -0.4846
    Cell Significance Index: -5.3800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4906
    Cell Significance Index: -9.7000
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.4942
    Cell Significance Index: -6.7200
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.4960
    Cell Significance Index: -9.8900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Cystine knot growth factor**: NDP belongs to the cystine knot growth factor family, which is characterized by a unique cystine knot structure that enables the gene to bind to specific receptors and interact with signaling pathways. 2. **Multifunctional protein**: NDP is a multifunctional protein that plays a role in various cellular processes, including cell signaling, differentiation, and survival. 3. **Expression in multiple tissues**: NDP is significantly expressed in a wide range of tissues and cells, including the retina, brain, and immune cells, suggesting its involvement in multiple physiological and pathological processes. **Pathways and Functions:** 1. **Norrin signaling pathway**: NDP activates the Norrin signaling pathway, which is involved in the regulation of vascular development, angiogenesis, and blood vessel remodeling. 2. **Canonical Wnt signaling pathway**: NDP interacts with the canonical Wnt signaling pathway, which is crucial for cell proliferation, differentiation, and survival. 3. **Endothelial cell differentiation**: NDP is involved in the differentiation of endothelial cells, which is essential for the formation of blood vessels and blood-brain barriers. 4. **Cellular response to hypoxia**: NDP plays a role in the cellular response to hypoxia, which is critical for the survival of cells in low-oxygen environments. 5. **Regulation of microglia differentiation**: NDP is involved in the regulation of microglia differentiation, which is essential for the development and maintenance of the central nervous system. **Clinical Significance:** 1. **Retinal development and disease**: NDP is essential for the development and maintenance of the retina, and its dysregulation is implicated in various retinal diseases, including retinal detachment, retinal degeneration, and glaucoma. 2. **Blood vessel disorders**: NDP is involved in the regulation of blood vessel formation and remodeling, and its dysregulation is implicated in various blood vessel disorders, including hypertension, atherosclerosis, and cancer. 3. **Neurological disorders**: NDP is involved in the regulation of neuronal development and survival, and its dysregulation is implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and stroke. 4. **Cancer**: NDP is involved in the regulation of angiogenesis and tumor growth, and its dysregulation is implicated in various types of cancer, including breast cancer, lung cancer, and colon cancer. In conclusion, the NDP gene is a multifaceted gene that plays a crucial role in various developmental and regenerative processes across multiple tissues and organs. Its dysregulation is implicated in various diseases, including retinal diseases, blood vessel disorders, neurological disorders, and cancer. Further research is needed to fully understand the mechanisms of NDP and its role in human health and disease.

Genular Protein ID: 729847528

Symbol: NDP_HUMAN

Name: Norrin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1303235

Title: Isolation of a candidate gene for Norrie disease by positional cloning.

PubMed ID: 1303235

DOI: 10.1038/ng0692-199

PubMed ID: 1303256

Title:

PubMed ID: 1303256

DOI: 10.1038/ng0992-84a

PubMed ID: 1303236

Title: Isolation and characterization of a candidate gene for Norrie disease.

PubMed ID: 1303236

DOI: 10.1038/ng0692-204

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9407136

Title: Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.

PubMed ID: 9407136

DOI: 10.1074/jbc.272.52.33410

PubMed ID: 10452356

Title: Localization of the Norrie disease gene mRNA by in situ hybridization.

PubMed ID: 10452356

DOI: 10.1016/s0361-9230(99)00071-4

PubMed ID: 8298646

Title: Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.

PubMed ID: 8298646

DOI: 10.1038/ng1293-376

PubMed ID: 24186977

Title: Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex.

PubMed ID: 24186977

DOI: 10.1101/gad.228544.113

PubMed ID: 8281159

Title: Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.

PubMed ID: 8281159

DOI: 10.1093/hmg/2.11.1953

PubMed ID: 8069314

Title: A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.

PubMed ID: 8069314

DOI: 10.1093/hmg/3.4.655

PubMed ID: 7993212

Title: Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.

PubMed ID: 7993212

DOI: 10.1001/archopht.1994.01090240080029

PubMed ID: 1303264

Title: Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

PubMed ID: 1303264

DOI: 10.1038/ng1092-139

PubMed ID: 1307245

Title: Mutations in the candidate gene for Norrie disease.

PubMed ID: 1307245

DOI: 10.1093/hmg/1.7.461

PubMed ID: 8268931

Title: Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.

PubMed ID: 8268931

DOI: 10.1093/hmg/2.10.1727

PubMed ID: 8252044

Title: A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

PubMed ID: 8252044

DOI: 10.1038/ng1093-180

PubMed ID: 7662640

Title: Mutations in the Norrie disease gene: a new mutation in a Japanese family.

PubMed ID: 7662640

DOI: 10.1136/bjo.79.7.703

PubMed ID: 7627181

Title: Mutations in the Norrie disease gene.

PubMed ID: 7627181

DOI: 10.1002/humu.1380050403

PubMed ID: 7795608

Title: Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.

PubMed ID: 7795608

DOI: 10.1093/hmg/4.3.489

PubMed ID: 8589700

Title: A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.

PubMed ID: 8589700

DOI: 10.1093/hmg/4.11.2179

PubMed ID: 8741107

Title: Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

PubMed ID: 8741107

DOI: 10.1111/j.1600-0420.1996.tb00374.x

PubMed ID: 8946107

Title: X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.

PubMed ID: 8946107

DOI: 10.1111/j.1399-0004.1996.tb02363.x

PubMed ID: 8807344

Title: Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.

PubMed ID: 8807344

DOI: 10.1002/(sici)1098-1004(1996)8:1<85::aid-humu15>3.0.co;2-n

PubMed ID: 9382152

Title: Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

PubMed ID: 9382152

DOI: 10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m

PubMed ID: 8990009

Title: Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.

PubMed ID: 8990009

DOI: 10.1002/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q

PubMed ID: 9143917

Title: Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

PubMed ID: 9143917

DOI: 10.1002/(sici)1098-1004(1997)9:5<396::aid-humu3>3.0.co;2-2

PubMed ID: 9143918

Title: Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

PubMed ID: 9143918

DOI: 10.1002/(sici)1098-1004(1997)9:5<402::aid-humu4>3.0.co;2-5

PubMed ID: 10544980

Title: Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

PubMed ID: 10544980

DOI: 10.1177/112067219900900312

PubMed ID: 10484772

Title: Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

PubMed ID: 10484772

DOI: 10.1093/hmg/8.11.2031

PubMed ID: 11337749

Title: Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.

PubMed ID: 11337749

DOI: 10.1002/1096-8628(20010415)100:1<52::aid-ajmg1214>3.0.co;2-b

PubMed ID: 14635119

Title: NDP gene mutations in 14 French families with Norrie disease.

PubMed ID: 14635119

DOI: 10.1002/humu.9204

PubMed ID: 15609522

Title: A novel missense Norrie disease mutation associated with a severe ocular phenotype.

PubMed ID: 15609522

DOI: 10.3928/01913913-20041101-10

PubMed ID: 16163268

Title: Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

PubMed ID: 16163268

PubMed ID: 16970763

Title: Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.

PubMed ID: 16970763

DOI: 10.1111/j.1442-9071.2006.01314.x

PubMed ID: 15776010

Title: Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.

PubMed ID: 15776010

DOI: 10.1038/sj.eye.6701840

PubMed ID: 17128466

Title: Gene symbol: NDP. Disease: Norrie disease.

PubMed ID: 17128466

PubMed ID: 17334993

Title: A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

PubMed ID: 17334993

DOI: 10.1002/ajmg.a.31531

PubMed ID: 17296899

Title: Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

PubMed ID: 17296899

DOI: 10.1001/archopht.125.2.225

PubMed ID: 17325173

Title: Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

PubMed ID: 17325173

DOI: 10.1167/iovs.06-1042

PubMed ID: 20340138

Title: Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

PubMed ID: 20340138

DOI: 10.1002/humu.21250

PubMed ID: 28192794

Title: The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

PubMed ID: 28192794

DOI: 10.1167/iovs.16-20281

Sequence Information:

  • Length: 133
  • Mass: 15044
  • Checksum: D219E8B7F957286A
  • Sequence:
  • MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH PLYKCSSKMV 
    LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT SKLKALRLRC SGGMRLTATY 
    RYILSCHCEE CNS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.