AutismKB 2.0

Annotation Detail for PKD1


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Basic Information Top
Gene Symbol:PKD1 ( PBP,Pc-1,TRPP1 )
Gene Full Name: polycystic kidney disease 1 (autosomal dominant)
Band: 16p13.3
Quick LinksEntrez ID:5310; OMIM: 601313; Uniprot ID:PKD1_HUMAN; ENSEMBL ID: ENSG00000008710; HGNC ID: 9008
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1824Bone disease
1883Polycystic kidney
1841Stomach cancer
2176Tuberous sclerosis
2237Neoplasm metastasis
Desease Name
polycystic kidney disease
renal disease
CARDIOVASCULAR
polycystic kidney disease 1
RENAL
stroke, hemorrhagic stroke, ischemic
Caroli's disease
No data
Desease Name
Polycystic kidney disease, adult type I
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PKD1 mRNAaffects expression 17562736
D000109 Acetylcholine PKD1 protein affects the susceptibility to Acetylcholineaffects response to substance 18679710
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PKD1 mRNAaffects expression 16483693
D002110 Caffeine PKD1 protein affects the reaction [Caffeine affects the abundance of Calcium]affects abundance|affects reaction 18679710
D002110 Caffeine PKD1 protein affects the susceptibility to Caffeineaffects response to substance 18679710
D002118 Calcium PKD1 protein promotes the reaction [LIS1 protein results in increased abundance of Calcium]increases abundance|increases reaction 15001556
D002118 Calcium PKD1 protein affects the reaction [Caffeine affects the abundance of Calcium]affects abundance|affects reaction 18679710
D002118 Calcium PKD1 protein affects the reaction [Thapsigargin affects the abundance of Calcium]affects abundance|affects reaction 18679710
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PKD1 mRNAaffects expression 17555576
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of PKD1 geneincreases mutagenesis 16724327
D005419 Flavonoids Flavonoids results in decreased expression of PKD1 mRNAdecreases expression 18035473
C030110 oxaliplatin oxaliplatin results in decreased expression of PKD1 mRNAdecreases expression 17762391
D010656 Phenylephrine PKD1 protein affects the susceptibility to Phenylephrineaffects response to substance 18679710
D011189 Potassium Chloride PKD1 protein affects the susceptibility to Potassium Chlorideaffects response to substance 18679710
D012643 Selenium Selenium results in increased expression of PKD1 mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of PKD1 mRNAincreases expression 18175754
D013467 Sulindac Sulindac results in increased expression of PKD1 mRNAincreases expression 11906190
D013629 Tamoxifen Tamoxifen affects the expression of PKD1 mRNAaffects expression 17555576
D019284 Thapsigargin PKD1 protein affects the reaction [Thapsigargin affects the abundance of Calcium]affects abundance|affects reaction 18679710
D019284 Thapsigargin PKD1 protein affects the susceptibility to Thapsigarginaffects response to substance 18679710
D014810 Vitamin E Vitamin E results in increased expression of PKD1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Sulindac 13.0214745880
MESH:D000008 Abdominal Neoplasms Tamoxifen 13.0214745880
MESH:D000138 Acidosis Ammonium Chloride 3.5518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9417505938
MESH:D058186 Acute Kidney Injury Sulindac 4.297897758
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.5714692618
MESH:D000230 Adenocarcinoma Sulindac 4.5711910360
MESH:D000236 Adenoma Ethylnitrosourea 7.326695378
MESH:D000236 Adenoma Sulindac 7.3210223192
MESH:D011125 Adenomatous Polyposis Coli Sulindac 4.5816460482 11535846 17611924 11874996 12394442 19003578 15623613
MESH:D000799 Angioedema Acetaminophen 3.8410982225
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.0917460149
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6515885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001913 Bowen's Disease Sulindac 5.3511207687
MESH:D001919 Bradycardia Phenylephrine 4.5415306635
MESH:D001927 Brain Diseases Ethylnitrosourea 4.8614991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.2716357521 16436596 16651633 15144691 18412241
MESH:D001943 Breast Neoplasms Sulindac 2.5016642371
MESH:D001943 Breast Neoplasms Tamoxifen 2.5018425577 16202921 21138602 15668708 19289846 19189210 20065188 19084267 20135344 19189212 18821012 19200415 16818667 21152245 16273361 19115204 19487384 17893378 20859285 15565566 19066611 19142967 19059307 16873071 18629630 18815881 20390343 11161223 19410462 20544844 17242785 19011961 17049068 18351453 19244106 19221464 20005174 17440819 18984771 18855134 17261762 19155303 18997820 19288272 19103187
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 3.9216050911
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.4919066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.833084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 2.8316924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.6017572228
MESH:D006332 Cardiomegaly Phenylephrine 3.5217124262 17287366 15728586 16170337 11754973 11179087
MESH:D002386 Cataract Acetaminophen 2.5710977129
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 3.7116003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 5.9817160924
MESH:D002779 Cholestasis Ethinyl Estradiol 2.8617110522 17681005 11677210 16919318 17333356 16105132 15861022
MESH:D019457 Chromosome Breakage Sodium Selenite 4.7415894690
MESH:D003092 Colitis Selenium 3.7717936198
MESH:D003110 Colonic Neoplasms oxaliplatin 4.4216024531 16004971 16510598
MESH:D003110 Colonic Neoplasms Sulindac 4.4212458338 12902858
MESH:D015179 Colorectal Neoplasms oxaliplatin 3.1918509181 17695437 17401013 17594712 17255274 18448328
MESH:D015179 Colorectal Neoplasms Sulindac 3.1910666051 11197048 11076880 18059344
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9119769572
MESH:D003711 Demyelinating Diseases Tamoxifen 4.3519031437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.7616285004
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.4619279558
MESH:D003930 Diabetic Retinopathy Sulindac 5.1612861449 17621415
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.2115619225 15968718 2444490 16177239 19370779 14725611 12540782 16781746 11421492 16109766 10774834 16081117 14550746 19416960 16227642 12958197 19164858 19085960 19420014 18071297 11529661 11287661 12153990 10915739 11834606 11461765 16393943 19739265 14986274 12705907 11739529 10663392 12392966 17906064 12594235 18713872 19923254 16485898 11743745 17522070 17562736
MESH:D056486 Drug-Induced Liver Injury Selenium 6.2115131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.2115131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1019426721
MESH:C538011 Eales disease Vitamin E 4.709068938
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 5.9818357618
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 8.8912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 8.8919031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.0319155303 20544844 17893378 16202921
MESH:D004715 Endometriosis Sulindac 4.4515652904
MESH:D004938 Esophageal Neoplasms Sulindac 3.1312235107
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.6315345470
MESH:D005234 Fatty Liver Tamoxifen 7.6314986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2216709447
MESH:D018221 Fibromatosis, Abdominal Sulindac 12.9314745880
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 12.9314745880
MESH:D018222 Fibromatosis, Aggressive Sulindac 11.6119069698
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 11.6119069698
MESH:D005756 Gastritis Acetaminophen 3.6816983495
MESH:D005764 Gastroesophageal Reflux Sulindac 4.9911910360
MESH:D005909 Glioblastoma Ethylnitrosourea 3.8216436596
MESH:D005910 Glioma Ethylnitrosourea 3.4816651633 16357521 18412241
MESH:D006330 Heart Defects, Congenital Vitamin E 2.9816080930
MESH:D006333 Heart Failure Selenium 3.0617162251
MESH:D006505 Hepatitis Caffeine 4.9611394713
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.6916863852 16490937
MESH:D019584 Hot Flashes Vitamin E 3.9714716179
MESH:D006930 Hyperalgesia Acetaminophen 7.9916870215
MESH:D006930 Hyperalgesia oxaliplatin 7.9917418472
MESH:D006973 Hypertension Phenylephrine 3.068949925 12717712
MESH:D006984 Hypertrophy Phenylephrine 4.5318502941 12791704
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8016945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4412013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4717937319
MESH:D007249 Inflammation Flavonoids 8.4417296493
MESH:D007249 Inflammation Sulindac 8.443291741
MESH:D007249 Inflammation Tamoxifen 8.4419457130
MESH:D007251 Influenza, Human Selenium 10.9616624496
MESH:D007251 Influenza, Human Vitamin E 10.9616624496
MESH:D007333 Insulin Resistance Sodium Selenite 3.2614714311
MESH:D007414 Intestinal Neoplasms Sulindac 4.6212351151 12663524 10223192 12584176 12628509 10213222
MESH:D007417 Intestinal Polyps Sulindac 4.9711245490 12394442
MESH:D007674 Kidney Diseases Acetaminophen 5.9215629191 12587719
MESH:D007674 Kidney Diseases Vitamin E 5.9212488133
MESH:D007676 Kidney Failure, Chronic Selenium 3.8716518626
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 7.6817379185
MESH:D007680 Kidney Neoplasms Tamoxifen 7.6818625569
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.0516316344
MESH:D008064 Lipidoses Tamoxifen 3.1415342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary Sulindac 4.2112468960
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.5218564211
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.5216169303
MESH:D008107 Liver Diseases Acetaminophen 4.2319014921 12969438 19460945 16611625 11587558 16610002 19784758 12587719
MESH:D008107 Liver Diseases Sulindac 4.2314986274 16867024
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2216871587 17185352
MESH:D008113 Liver Neoplasms Tamoxifen 2.2116684651
MESH:D008171 Lung Diseases Vitamin E 3.1616863852
MESH:D008175 Lung Neoplasms Ethylnitrosourea 4.936695378 17703301 16019985 16271038
MESH:D008175 Lung Neoplasms Sulindac 4.9315713900 19359593
MESH:D008175 Lung Neoplasms Tamoxifen 4.9318625569
MESH:D008175 Lung Neoplasms Vitamin E 4.9311062179
MESH:D008223 Lymphoma Ethylnitrosourea 3.9215790496
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.0414737004
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.0315375218
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.7519428831
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 10.0110838139 10767621 18041768
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.0115318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 10.0114580682 16827153 11731420 19196722 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.5519453300
MESH:D008545 Melanoma Sulindac 3.6016642371
MESH:D008545 Melanoma Tamoxifen 3.6012393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.1715990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5519513568
MESH:D008579 Meningioma Ethylnitrosourea 5.9817943659
MESH:D008654 Mesothelioma Selenium 2.7815107826
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5119410462
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.3916707424
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.0019189210 19200415 19196722
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.4117160924 16003739 16651423
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.4618514411
MESH:D019636 Neurodegenerative Diseases Sulindac 8.4616850258 17266991
MESH:D009837 Oligodendroglioma Ethylnitrosourea 5.9817160924
MESH:D010024 Osteoporosis Calcium 3.7717882678
MESH:D010146 Pain Acetaminophen 6.8516870215
MESH:D010146 Pain Sulindac 6.853291741
MESH:D010190 Pancreatic Neoplasms Sulindac 3.3416820089 11504793
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6711578682
MESH:D010954 Plasmacytoma Selenium 4.8915087411
MESH:D016891 Polycystic Kidney, Autosomal Dominant marker/mechanism 19401297
MESH:D007690 Polycystic Kidney Diseases marker/mechanism
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.6018760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.6015067354
MESH:D011471 Prostatic Neoplasms Vitamin E 2.6015084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.3016919318 15861022
MESH:D012130 Respiratory Hypersensitivity Acetylcholine 4.239413022
MESH:D012852 Sinusitis Phenylephrine 4.697327846
MESH:D012871 Skin Diseases Vitamin E 2.4418709164
MESH:D012893 Sleep Disorders Caffeine 5.3119395429
MESH:D007319 Sleep Initiation and Maintenance Disorders Caffeine 5.1017225163
MESH:D013088 Spermatocele Ethinyl Estradiol 11.5616709447
MESH:D013088 Spermatocele Tamoxifen 11.5616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.0319457130
MESH:D020521 Stroke Vitamin E 3.5016517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1315669648
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.1515790496
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.3516712894 8653321 17572228
MESH:D014581 Urticaria Acetaminophen 2.9610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 9.6114692618
MESH:D014594 Uterine Neoplasms Sulindac 9.6118645019
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5215869587 14671159
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35521
    • No data
    Releated disease ID Related disease Name
    PA446413Polycystic Kidney, Autosomal Dominant
    No data
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    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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