AutismKB 2.0

Annotation Detail for NDP


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Basic Information Top
Gene Symbol:NDP ( EVR2,FEVR,ND )
Gene Full Name: Norrie disease (pseudoglioma)
Band: Xp11.3
Quick LinksEntrez ID:4693; OMIM: 300658; Uniprot ID:NDP_HUMAN; ENSEMBL ID: ENSG00000124479; HGNC ID: 7678
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
1910Infantile spasms
2178Retinal disease
Desease Name
classical ocular phenotype
VISION
Cys39Arg mutation
advanced retinopathy of prematurity
Norrie disease
Retinopathy of Prematurity
No data
Desease Name
Exudative vitreoretinopathy, X-linked
Norrie disease
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004958 Estradiol [Progesterone co-treated with Estradiol] results in increased expression of NDP mRNAaffects cotreatment|increases expression 17404688
D015735 Mifepristone Mifepristone results in decreased expression of NDP mRNAdecreases expression 17584828
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NDP mRNAaffects binding|increases activity|increases expression 19710929
D011374 Progesterone [Progesterone co-treated with Estradiol] results in increased expression of NDP mRNAaffects cotreatment|increases expression 17404688
D011374 Progesterone Progesterone results in increased expression of NDP mRNAincreases expression 17404688
D014051 Toluene 2,4-Diisocyanate Toluene 2,4-Diisocyanate results in increased expression of NDP mRNAincreases expression 11379042
C025643 vinclozolin vinclozolin affects the expression of NDP mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D001008 Anxiety Disorders vinclozolin 3.8919015723
MESH:D001249 Asthma Toluene 2,4-Diisocyanate 3.5711467998 15590890 10797510 15590891 19187332 3040596 8156442 17015710 11077013 170078 12684321 10934080 16792590 7684630 16210060 18394133 6091946 6091945 20032816 11742282 15855793 12585506 12762349
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.8617868700
MESH:D001930 Brain Injuries Progesterone 4.6815380490 15665606 15845082
MESH:D001943 Breast Neoplasms Estradiol 2.0812948864 19861407 18497071 17261762 17018787 17289903 14630087 16675129
MESH:D001943 Breast Neoplasms Progesterone 2.0816175315 15562024 17614352
MESH:D001943 Breast Neoplasms Toluene 2,4-Diisocyanate 2.0811921183
MESH:D016535 Bronchial Hyperreactivity Toluene 2,4-Diisocyanate 4.7915590891 12507178 8156442
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.9316111702
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7916924424
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.9818566989
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D003456 Cryptorchidism vinclozolin 4.7214966744
MESH:D017449 Dermatitis, Allergic Contact Toluene 2,4-Diisocyanate 4.5115491423 18759878 12956900
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003877 Dermatitis, Contact Toluene 2,4-Diisocyanate 5.1417010967
MESH:D003928 Diabetic Nephropathies Estradiol 3.7019279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.9117187935
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.1617692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.1711473722 19148513 18566989
MESH:D004715 Endometriosis Mifepristone 10.4616134523
MESH:D004715 Endometriosis Progesterone 10.4616134523
MESH:D004802 Eosinophilia Toluene 2,4-Diisocyanate 5.078156442
OMIM:305390 EXUDATIVE VITREORETINOPATHY 2, X-LINKED marker/mechanism
MESH:D005128 Eye Diseases Toluene 2,4-Diisocyanate 6.2118447907
MESH:D005234 Fatty Liver pirinixic acid 3.0920131406 19236843
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4016973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.8216417039
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4118467677 16221962 19176532 19772884
MESH:D006558 Herpes Genitalis Estradiol 5.5515709030
MESH:D019584 Hot Flashes Estradiol 4.2717088409
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006967 Hypersensitivity Toluene 2,4-Diisocyanate 4.9011019492 10880147
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.8215869954
MESH:D007248 Infertility, Male vinclozolin 3.2416467254
MESH:D007249 Inflammation Progesterone 2.7415869954
MESH:D007333 Insulin Resistance Estradiol 7.8416393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.8416306350
MESH:D007674 Kidney Diseases Estradiol 2.7415618244
MESH:D007680 Kidney Neoplasms Estradiol 3.2415610895
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1916417039
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3714716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3715474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9116377806 15890375 20007298
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.6916891317 11807958 11408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.6917203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 5.0019453300
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 9.0616810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 9.0616411023
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009374 Neoplasms, Experimental Toluene 2,4-Diisocyanate 5.151670384
MESH:D009389 Neovascularization, Pathologic Estradiol 4.1917289903
MESH:D009421 Nervous System Malformations Estradiol 4.0316427766 11399458
MESH:C537849 Norrie disease marker/mechanism
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D009784 Occupational Diseases Toluene 2,4-Diisocyanate 5.023040596 11077013 18394133 6091945 12585506 8156442 6091946
MESH:D010051 Ovarian Neoplasms Estradiol 8.4719401270
MESH:D010051 Ovarian Neoplasms Mifepristone 8.4716525653
MESH:D010051 Ovarian Neoplasms Progesterone 8.4717393432 16525653
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.3618220299 18042343 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.4018220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2120887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0316740699
MESH:D011472 Prostatitis vinclozolin 5.4018629315
MESH:D011657 Pulmonary Eosinophilia Toluene 2,4-Diisocyanate 6.1414606601
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012130 Respiratory Hypersensitivity Toluene 2,4-Diisocyanate 4.637692837 20219652 16940033
MESH:D012140 Respiratory Tract Diseases Toluene 2,4-Diisocyanate 5.6418447907
MESH:D012220 Rhinitis Toluene 2,4-Diisocyanate 4.8819050374
MESH:D012221 Rhinitis, Allergic, Perennial Toluene 2,4-Diisocyanate 5.8012617775 15015336
MESH:D006255 Rhinitis, Allergic, Seasonal Toluene 2,4-Diisocyanate 6.0319075512
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9418045962
MESH:D012912 Sneezing Toluene 2,4-Diisocyanate 6.0319075512 19050374
MESH:D013119 Spinal Cord Injuries Progesterone 4.7416503802 15862959
MESH:D013978 Tibial Fractures Estradiol 5.2119048282
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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