AutismKB 2.0

Annotation Detail for NPHP4


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Basic Information Top
Gene Symbol:NPHP4 ( FLJ46306,KIAA0673,POC10,SLSN4 )
Gene Full Name: nephronophthisis 4
Band: 1p36.31
Quick LinksEntrez ID:261734; OMIM: 607215; Uniprot ID:NPHP4_HUMAN; ENSEMBL ID: ENSG00000131697; HGNC ID: 19104
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
QT interval
No data
Desease Name
Senior-Loken syndrome 4
Nephronophthisis 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of NPHP4 mRNAincreases expression 16788091
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of NPHP4 mRNAdecreases expression 15336504
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of NPHP4 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NPHP4 mRNAaffects binding|decreases expression|increases activity 19710929
D014212 Tretinoin Tretinoin results in increased expression of NPHP4 mRNAincreases expression 16788091
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of NPHP4 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.958875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000505 Alopecia Tretinoin 3.8715955085
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D001169 Arthritis, Experimental Tretinoin 3.2516412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3216292516
MESH:D001249 Asthma Tretinoin 2.4216456186
MESH:D001321 Autistic Disorder Valproic Acid 1.9918775368 17507914 16609825 18396377 17688650 18558336 17157402 20603192 19232924 15238991 19460635 18316065 18940202 18985861 18177632
MESH:D001471 Barrett Esophagus Tretinoin 4.7816935849
MESH:D001714 Bipolar Disorder Valproic Acid 3.2117594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.0819483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.0816197459 16206674
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.598888407
MESH:D001943 Breast Neoplasms Tretinoin 2.2416443354 16873071 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.0516813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6816168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.911917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3616051514 16096774
MESH:D002386 Cataract Tretinoin 3.2617460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.0516129372
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D002822 Choriocarcinoma Tretinoin 5.6816461808
MESH:D002972 Cleft Palate Tretinoin 2.789407595
MESH:D003092 Colitis Tretinoin 4.1217035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.7510589399 14991402 9211117 8800419 17551590 9125849 16925845 9664655 9224671 9142499
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.758888407 16575769 17688650
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.241733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D004489 Edema, Cardiac Tretinoin 4.9918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3016569247
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.573659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.443922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.876426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D005124 Eye Abnormalities Tretinoin 3.8116938888 9664655
MESH:D005234 Fatty Liver pirinixic acid 8.8319236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 8.8319224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.5118558336 8888407
MESH:D005355 Fibrosis Tretinoin 3.9317994277
MESH:D005909 Glioblastoma Tretinoin 3.1917312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3816096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.049664655 14991402
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4118467677 16221962 19176532 19772884
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006930 Hyperalgesia Tretinoin 3.4616870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9916778211
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.0416612254
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007410 Intestinal Diseases Tretinoin 4.1817994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.2317551590 15992940
MESH:D007938 Leukemia Tretinoin 2.9017143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.0219285840 16932348 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.0419850784 17596541 16294345
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0416294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3417301526 17506722 17368321 17712046 16766008 17107899 15748426 19075265 19642359 9834237 16331271 17339181 16935935 17294898 19035177 12679006 19225113 16823087 17217047 16788101 16140955 17361223 19029980 16891316 17649720
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.539224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4215474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.4216248980 18397230
MESH:D008113 Liver Neoplasms pirinixic acid 1.9115890375 20007298 16377806
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008527 Medulloblastoma Tretinoin 2.8817453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.8416940565
MESH:D008881 Migraine Disorders Valproic Acid 3.4118765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.9317596541
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.9317596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms pirinixic acid 5.3617405874
MESH:D009369 Neoplasms Tretinoin 5.3616594593 16946489
OMIM:606966 NEPHRONOPHTHISIS 4 marker/mechanism
MESH:D009421 Nervous System Malformations Tretinoin 4.169125849
MESH:D009436 Neural Tube Defects Tretinoin 7.959142499
MESH:D009436 Neural Tube Defects Valproic Acid 7.958888407 16359493
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4216936753
MESH:D010146 Pain Tretinoin 3.1616870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5515976015
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2920603192
MESH:D011507 Proteinuria Tretinoin 3.9516636307
MESH:D019310 Pseudolymphoma Valproic Acid 5.0612752131 11422049
MESH:D011625 Pterygium Tretinoin 5.2616723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012208 Rhabdomyosarcoma Tretinoin 12.0616116481 16283617
MESH:D012208 Rhabdomyosarcoma Valproic Acid 12.0619155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9414763951 17978042 11044598 15475178 3137016 11738929 1511512 16876388
MESH:C537581 Senior-Loken syndrome 4 marker/mechanism
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.238532709
MESH:D012878 Skin Neoplasms Tretinoin 6.2316467112
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2617045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.0916051514
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D014376 Tuberculosis Tretinoin 3.4116040207
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9816129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.1316752155
MESH:D014820 Vitiligo Tretinoin 4.4416761959
MESH:D009396 Wilms Tumor Tretinoin 4.2516287080
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134927048
    • No data
    Releated disease ID Related disease Name
    PA446329Motor Neuron Disease
    No data
    Drug Bank Top

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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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