Detailed information for NDP
Basic information
| Official symbol | NDP |
|---|---|
| Official full name | Norrie disease (pseudoglioma) |
| Location | Xp11.4 |
| Gene type | protein-coding |
| Synonyms | EVR2|FEVR|ND |
| Quick links | Entrez ID:4693; HGNC:7678; MIM:300658; Ensembl:ENSG00000124479; HPRD:02404; Vega:OTTHUMG00000021391 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0050953 | sensory perception of light stimulus | 205 | 100 | 2.55 | 39.21 | 8.72e-146 | 1.02e-142 |
| GO:0007601 | visual perception | 204 | 99 | 2.54 | 39.01 | 7.39e-144 | 4.34e-141 |
| GO:0007600 | sensory perception | 495 | 103 | 6.16 | 16.73 | 4.54e-105 | 1.78e-102 |
| GO:0050877 | neurological system process | 1237 | 106 | 15.39 | 6.89 | 1.82e-66 | 5.34e-64 |
| GO:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| GO:0060041 | retina development in camera-type eye | 105 | 31 | 1.31 | 23.73 | 1.13e-34 | 1.90e-32 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0031012 | extracellular matrix | 426 | 15 | 4.65 | 3.23 | 6.94e-05 | 0.0004 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|
| Hsapiens_Module_29 | 33 | 4 | 0.34 | 11.80 | 0.0003 | 0.0022 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chrX | 43807023 | 43833921 | 305390 | "Exudative vitreoretinopathy, X-linked" | 3 | 300658 | Xp11.3 |
| chrX | 43807023 | 43833921 | 310600 | Norrie disease | 3 | 300658 | Xp11.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0001186 | pigmentation phenotype |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0003012 | no phenotypic analysis |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0003631 | nervous system phenotype |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0005377 | hearing/vestibular/ear phenotype |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0005385 | cardiovascular system phenotype |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0005386 | behavior/neurological phenotype |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0005389 | reproductive system phenotype |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0005390 | skeleton phenotype |
| chrX | 43807023 | 43833921 | 4693 | Ndp | MGI:102570 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.
Gene-disease network
If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.
Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.