AutismKB 2.0

Annotation Detail for HNF1B


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Basic Information Top
Gene Symbol:HNF1B ( FJHN,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,TCF2,VHNF1 )
Gene Full Name: HNF1 homeobox B
Band: 17q12
Quick LinksEntrez ID:6928; OMIM: 189907; Uniprot ID:HNF1B_HUMAN; ENSEMBL ID: ENSG00000108753; HGNC ID: 11630
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04950Maturity onset diabetes of the young
Pathway IDPathway Name
Regulation of beta-cell development
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Metabolic diseases
Diabetes
H00409Type II diabetes mellitus
H00410Maturity onset diabetes of the young (MODY)
No data
Desease Name
prostate cancer
CANCER
Desease Name
Type 2 diabetes
Prostate cancer
Desease Name
Prostate cancer, hereditary, 11
Diabetes mellitus, noninsulin-dependent
Renal cysts and diabetes syndrome
Renal cell carcinoma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one results in decreased expression of HNF1B mRNAdecreases expression 16288212
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of HNF1B mRNAaffects expression 21346803
C105260 4-tert-octylphenol 4-tert-octylphenol results in increased expression of HNF1B mRNAincreases expression 17011747
D002945 Cisplatin Cisplatin results in decreased expression of HNF1B mRNAdecreases expression 18656965
D004054 Diethylstilbestrol Diethylstilbestrol results in decreased expression of HNF1B mRNAdecreases expression 17011747
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of HNF1B mRNAincreases expression 17011747
D005839 Gentamicins Gentamicins results in decreased expression of HNF1B mRNAdecreases expression 18656965
D005839 Gentamicins HNF1B protein affects the reaction [Gentamicins results in decreased expression of TMEM27 mRNA]affects reaction|decreases expression 18656965
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of HNF1B mRNAincreases expression 20106945
D014212 Tretinoin Tretinoin results in increased expression of HNF1B mRNAincreases expression 16102743
D014212 Tretinoin Tretinoin results in increased expression of HNF1B mRNAincreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1814514962 15322242 11752688
MESH:D058186 Acute Kidney Injury Cisplatin 9.9612690470 17670903 15814532
MESH:D058186 Acute Kidney Injury Gentamicins 9.9611274264
MESH:D000230 Adenocarcinoma Cisplatin 2.8011798837 17638652
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D000686 Amyloidosis Diethylstilbestrol 4.7615469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4016456186
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7612125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.7616206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D019046 Bone Marrow Neoplasms Cisplatin 5.2614601052
MESH:D001943 Breast Neoplasms Cisplatin 2.0119526202 18382427
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.0117129689 15324884
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0120435547
MESH:D001943 Breast Neoplasms Tretinoin 2.0116166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.8916705839
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 6.8917982673
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 6.8915948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.891917145
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.1012023789 16685392
MESH:D002292 Carcinoma, Renal Cell marker/mechanism
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 5.0518337622 17066447 6189445
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 5.0516051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18670907 18850075
MESH:D002386 Cataract Tretinoin 3.2217460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.936135515
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9316129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.0512621046 8697196 15668235 15340226 16354765
MESH:D002972 Cleft Palate Tretinoin 6.059407595
MESH:D003092 Colitis Tretinoin 4.0117035595
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5010048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.509125849 17551590 9664655 16925845 14991402 10589399 8800419 9224671 9142499 9211117
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.8412952375 16002989
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3218551238
MESH:D003924 Diabetes Mellitus, Type 2 marker/mechanism|therapeutic 17603485
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.8921346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8920420201
MESH:D004362 Drug Toxicity Cisplatin 14.9212649298 12231392 19839026 15033597
MESH:D004362 Drug Toxicity Gentamicins 14.9211033412 15033597
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 14.9211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.2315322242 18230668 16714409
MESH:D004489 Edema, Cardiac Tretinoin 13.2318230668
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 5.0316402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 8.0916804899 15700306
MESH:D016889 Endometrial Neoplasms Tretinoin 8.0916569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms Cisplatin 2.8315173087 16785472 15464296 17638652 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.4311564622
MESH:D005124 Eye Abnormalities Tretinoin 9.439664655 16938888
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.7916534752 16513791 16002989 16611131 15751030
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.6620067830
MESH:D005355 Fibrosis Tretinoin 9.6617994277
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.2816452187
MESH:D005909 Glioblastoma Tretinoin 3.1517312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms Cisplatin 8.4315464296 15102660
MESH:D006258 Head and Neck Neoplasms Tretinoin 8.4316096774
MESH:D034381 Hearing Loss Cisplatin 11.0219898482
MESH:D034381 Hearing Loss Gentamicins 11.0219130971 15968427 17868369 18024279
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.6215464296
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9110048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 6.919664655 14991402
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 12621046 16120746
MESH:D006689 Hodgkin Disease Cisplatin 3.8016170182 16200630
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4215340226 18606429 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Tretinoin 3.4016870215
MESH:D053565 Hypercalciuria Gentamicins 6.0417652376
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D006965 Hyperplasia Diethylstilbestrol 4.7412960047 14722030
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007021 Hypospadias Diethylstilbestrol 4.8916002989
MESH:D007246 Infertility Diethylstilbestrol 4.6415036965
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612200463 12878042
MESH:D007410 Intestinal Diseases Tretinoin 4.0717994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.7616580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.7615992940 17551590
MESH:D007673 Kidney Cortex Necrosis Cisplatin 14.6115464296
MESH:D007673 Kidney Cortex Necrosis Gentamicins 14.6118842672
MESH:D007674 Kidney Diseases Cisplatin 7.1512649298 15190930 19839026 18289764 12231392
MESH:D007674 Kidney Diseases Gentamicins 7.1519349640 18289764 17934191
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.2216705839
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 8.2216762066 15003126 14681315
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 13.3011231351
MESH:D007683 Kidney Tubular Necrosis, Acute Gentamicins 13.3011231351
MESH:D007859 Learning Disorders Diethylstilbestrol 4.3717184923
MESH:D016773 Leishmaniasis, Cutaneous Gentamicins 4.6610219319
MESH:D007938 Leukemia 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one 7.0512970779
MESH:D007938 Leukemia Tretinoin 7.0517143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9416482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1117596541 16294345 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3016766008 17107899 17301526 17712046 19225113 19642359 17506722 17339181 12679006 19075265 15748426 17361223 17368321 16823087 16935935 17294898 16331271 19035177 16140955 17649720 17217047 9834237 19029980 16891316 16788101
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3612878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3618397230 16248980
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.907678174
MESH:D008113 Liver Neoplasms Diethylstilbestrol 7.9016712894 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9016984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.202876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2012151625
MESH:D008175 Lung Neoplasms Cisplatin 2.5211798837 17225452 6189445
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5219555203 11884234
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.4915166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.6415700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.8916002989
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma Cisplatin 3.6112393984 16809738 12883367 18505091 18332650 16432458 18176117 17761969 12374674 15577323 11135225 16248763 17023156
MESH:D008545 Melanoma Tretinoin 3.6116752155
MESH:D018328 Melanoma, Amelanotic Cisplatin 5.1115990972
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
MESH:D008654 Mesothelioma Cisplatin 3.3217638057
MESH:D009137 Muscular Dystrophy, Animal Gentamicins 6.6518694830
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2017596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.207678174 18551238
MESH:D009369 Neoplasms Cisplatin 9.0316773208
MESH:D009369 Neoplasms Diethylstilbestrol 9.0315313581
MESH:D009369 Neoplasms Tretinoin 9.0316594593 16946489
MESH:D009395 Nephritis, Interstitial Cisplatin 4.8715464296
MESH:D009421 Nervous System Malformations Diethylstilbestrol 18.1111399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 18.1114600291
MESH:D009421 Nervous System Malformations Tretinoin 18.119125849
MESH:D009436 Neural Tube Defects Tretinoin 3.209142499
MESH:D009447 Neuroblastoma Cisplatin 3.568761367
MESH:D017599 Neuroectodermal Tumors Cisplatin 5.038761367
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6616049721
MESH:D010051 Ovarian Neoplasms 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one 8.4716211241
MESH:D010051 Ovarian Neoplasms Cisplatin 8.4719769630 15464296 6897625 17225452
MESH:D010051 Ovarian Neoplasms Tretinoin 8.4716936753
MESH:D010146 Pain Tretinoin 3.1016870215
MESH:D010190 Pancreatic Neoplasms Cisplatin 5.7119003803
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.7115976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.5915464296
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.5514722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.9815687265 16977796
MESH:D010997 Pleural Neoplasms Cisplatin 5.7217638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 10.7217184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.7211118676 11222880 11896295 11399792
OMIM:611955 PROSTATE CANCER, HEREDITARY, 11 marker/mechanism
MESH:D011471 Prostatic Neoplasms marker/mechanism 18758462 18264096
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.5317136230 15846301 15046698
MESH:D011507 Proteinuria Gentamicins 10.4215033597
MESH:D011507 Proteinuria Tretinoin 10.4216636307
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:C535520 Renal cysts and diabetes syndrome marker/mechanism
MESH:D051437 Renal Insufficiency Cisplatin 11.7115464296
MESH:D051437 Renal Insufficiency Gentamicins 11.7115728788 17132701
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012173 Retinitis Gentamicins 6.6518644591
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3616116481 16283617
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.7114601052
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6918551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8916192470
MESH:D012878 Skin Neoplasms Tretinoin 5.8916467112
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.7215464296
MESH:D013088 Spermatocele Diethylstilbestrol 5.0916709447 16002989
MESH:D013274 Stomach Neoplasms Cisplatin 2.6815958060 18396642 17522103
MESH:D013274 Stomach Neoplasms Tretinoin 2.6817261132
MESH:D013736 Testicular Neoplasms Cisplatin 4.8915464296 17225452
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2116026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.9116049721
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 8.9112973940 17225452 15464296
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 8.9117306315 16452187 16712894
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6610091137
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 17.3116803524
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 17.3116175088
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 17.3116129372
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.5514652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.3515809267 16690809
MESH:D014604 Uveal Neoplasms Tretinoin 4.9916752155
MESH:D014625 Vaginal Neoplasms Cisplatin 12.1315577323
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 12.1316002989 16513791
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D015837 Vestibular Diseases Gentamicins 5.8018776599
MESH:D014820 Vitiligo Tretinoin 4.3416761959
MESH:D014839 Vomiting Cisplatin 5.0911897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
Pathway ID Pathway Name
KEGG:04950 Maturity onset diabetes of the young
REACT:13698 Regulation of beta-cell development
REACT:13641 Regulation of Beta-Cell Development
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162391083
    • No data
    Releated disease ID Related disease Name
    PA443886Diabetes Mellitus
    PA445425Prostatic Neoplasms
    PA443890Diabetes Mellitus, Type 2
    PA445425Prostatic Neoplasms
    PA444065Epilepsy
    PA153627658Maturity-onset Diabetes of the Young Type 5
    PA153627659Renal Disease, Pediatric
    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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