AutismKB 2.0

Annotation Detail for POU1F1


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Basic Information Top
Gene Symbol:POU1F1 ( CPHD1,GHF-1,PIT1,POU1F1a,Pit-1 )
Gene Full Name: POU class 1 homeobox 1
Band: 3p11.2
Quick LinksEntrez ID:5449; OMIM: 173110; Uniprot ID:PIT1_HUMAN; ENSEMBL ID: ENSG00000064835; HGNC ID: 9210
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
200077Glucocorticoid receptor regulatory network
No data
No data
Related Diseases/Disorders Top
No data
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Desease Name
combined pituitary hormone deficiency
METABOLIC
Mental Retardation
DEVELOPMENTAL
No data
Desease Name
Pituitary hormone deficiency, combined, 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen POU1F1 gene mutant form results in increased susceptibility to Acetaminophenincreases response to substance 16713617
D000643 Ammonium Chloride Ammonium Chloride affects the expression of POU1F1 mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A results in decreased expression of POU1F1 mRNA alternative formdecreases expression 16323634
D002104 Cadmium POU1F1 gene mutant form results in decreased susceptibility to Cadmiumdecreases response to substance 15701676
16713617
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of POU1F1 proteinincreases expression 16468032
D004958 Estradiol Estradiol results in increased expression of POU1F1 proteinincreases expression 16015026
D006861 Hydrogen Peroxide POU1F1 gene mutant form results in decreased susceptibility to Hydrogen Peroxidedecreases response to substance 16713617
15701676
D008345 Manganese Manganese results in increased expression of POU1F1 mRNAincreases expression 17175027
C025340 manganese chloride manganese chloride results in increased expression of POU1F1 mRNAincreases expression 17175027
D009151 Mustard Gas Mustard Gas results in increased expression of POU1F1 mRNAincreases expression 15674844
D010269 Paraquat POU1F1 gene mutant form results in decreased susceptibility to Paraquatdecreases response to substance 16713617
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000230 Adenocarcinoma Estradiol 2.1311473722
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.9611874814
MESH:D000686 Amyloidosis Diethylstilbestrol 4.6415469931
MESH:D000756 Anemia, Sideroblastic Manganese 11.5016910769
MESH:D000756 Anemia, Sideroblastic manganese chloride 11.5016910769
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001249 Asthma Mustard Gas 2.7510378619
MESH:D050197 Atherosclerosis Cadmium 3.7215687053
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001768 Blister Mustard Gas 5.3519167455
MESH:D001862 Bone Resorption bisphenol A 4.0011985600
MESH:D001943 Breast Neoplasms bisphenol A 1.9717123778
MESH:D001943 Breast Neoplasms Diethylstilbestrol 1.9715324884 17129689
MESH:D001943 Breast Neoplasms Estradiol 1.9717261762 12948864 18497071 17289903 16675129 19861407 17018787 14630087
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.3515286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.1917687719 10378619
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.683084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 4.6815948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6816924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.1817123778
MESH:D002318 Cardiovascular Diseases Hydrogen Peroxide 3.6116936243
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic Cadmium 7.3217332340
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.3218566989
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.7216002989 12952375
MESH:D003928 Diabetic Nephropathies Estradiol 3.5419279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6212594235 11421492 16109766 19739265 15619225 12153990 19085960 10663392 16081117 17906064 2444490 10915739 12540782 19416960 17562736 17522070 11743745 16227642 11529661 14986274 19923254 18713872 12392966 11461765 14550746 12958197 16485898 16177239 19370779 12705907 16393943 11287661 15968718 14725611 19420014 11834606 10774834 18071297 19164858 16781746 11739529
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004487 Edema Mustard Gas 3.4511428647 9260866 11402378 11428631
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 4.8916402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 7.8415700306 16804899
MESH:D016889 Endometrial Neoplasms Estradiol 7.8419148513 18566989 11473722
MESH:D004890 Erythema Mustard Gas 5.359357497
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.7316002989 16534752 16513791 16611131 15751030
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.1416452187
MESH:D005909 Glioblastoma Manganese 4.0017043766
MESH:D005911 Gliosis Paraquat 5.3811124998
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
MESH:D019584 Hot Flashes Estradiol 3.9717088409
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006965 Hyperplasia Diethylstilbestrol 4.6112960047 14722030
MESH:D007021 Hypospadias Diethylstilbestrol 4.7516002989
MESH:D007246 Infertility Diethylstilbestrol 4.5215036965
MESH:D007248 Infertility, Male Paraquat 3.344850670
MESH:D007249 Inflammation Mustard Gas 2.858975870 11428631 11428620 17524151 9260866 11402378 9357497 16001271 11428647
MESH:D007333 Insulin Resistance bisphenol A 7.7316393666
MESH:D007333 Insulin Resistance Estradiol 7.7316393666 16627594
MESH:D007674 Kidney Diseases Acetaminophen 10.5812587719 15629191
MESH:D007674 Kidney Diseases Cadmium 10.5816226777 16322080 16962696
MESH:D007674 Kidney Diseases Estradiol 10.5815618244
MESH:D007676 Kidney Failure, Chronic Hydrogen Peroxide 4.4116518626
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 7.9414681315 15003126 16762066
MESH:D007680 Kidney Neoplasms Estradiol 7.9415610895
MESH:D007859 Learning Disorders Diethylstilbestrol 4.2417184923
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D008107 Liver Diseases Acetaminophen 1.6619460945 12587719 19784758 11587558 12969438 16611625 16610002 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3717185352 16871587
MESH:D008113 Liver Neoplasms Diethylstilbestrol 2.6815890375 16712894
MESH:D008171 Lung Diseases Mustard Gas 3.5418702808 18161513
MESH:D008175 Lung Neoplasms Mustard Gas 2.178781369 3148597
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.3415166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.5715700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.7316002989
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6417203775 11807958 11408345 16891317
MESH:D020149 Manganese Poisoning Estradiol 13.7419453300
MESH:D020149 Manganese Poisoning Manganese 13.7416551646 19453300 16568477
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D009069 Movement Disorders Manganese 5.1616551646
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3916810080
MESH:D009369 Neoplasms Diethylstilbestrol 2.8215313581
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009410 Nerve Degeneration Manganese 9.1516551646
MESH:D009410 Nerve Degeneration Paraquat 9.1516893418
MESH:D009421 Nervous System Malformations bisphenol A 17.4611399458 16427766
MESH:D009421 Nervous System Malformations Diethylstilbestrol 17.4611399458
MESH:D009421 Nervous System Malformations Estradiol 17.4616427766 11399458
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D009503 Neutropenia Mustard Gas 4.1216761898 7688884
MESH:D010049 Ovarian Diseases bisphenol A 5.1811985600
MESH:D010051 Ovarian Neoplasms Estradiol 2.2519401270
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D010212 Papilloma Hydrogen Peroxide 4.2612065085
MESH:D010300 Parkinson Disease Manganese 5.8811181820
MESH:D010300 Parkinson Disease Paraquat 5.8811445065 16140633 12911755 16510128 15824117 15451049 11124998 11181820
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.6116190885
MESH:D020734 Parkinsonian Disorders Manganese 4.6016140633
MESH:D016491 Peripheral Vascular Diseases Cadmium 5.5815687053
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.3914722030
OMIM:613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1 marker/mechanism
OMIM:262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2 marker/mechanism
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.8515687265 16977796
MESH:D011014 Pneumonia Paraquat 4.6512504350
MESH:D011041 Poisoning Mustard Gas 3.9415727166
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.5010548101
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 10.5017184923
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 11.0220887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 11.0220887781
MESH:D011471 Prostatic Neoplasms bisphenol A 2.1116740699
MESH:D011471 Prostatic Neoplasms Cadmium 2.1117075824
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 2.1117136230 15846301 15046698
MESH:D011471 Prostatic Neoplasms Estradiol 2.1116740699
MESH:D011537 Pruritus Mustard Gas 4.2918058305
MESH:D011629 Puberty, Precocious bisphenol A 4.9810548101
MESH:D011658 Pulmonary Fibrosis Mustard Gas 6.0317620002 17266442 17720292 10334151 17894541
MESH:D011658 Pulmonary Fibrosis Paraquat 6.0316324872 17997886
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.0511700416
MESH:D012135 Respiratory Sounds Paraquat 4.2311874814
MESH:D012162 Retinal Degeneration Paraquat 3.9716458197
MESH:D012871 Skin Diseases Mustard Gas 2.7412880345 15451306 16961503
MESH:D012878 Skin Neoplasms Hydrogen Peroxide 3.1312065085
MESH:D013088 Spermatocele Diethylstilbestrol 4.9316709447 16002989
MESH:D019966 Substance-Related Disorders bisphenol A 4.1816684133 16045194
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.8216452187 17306315 16712894
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.1616175088
MESH:D014591 Uterine Diseases bisphenol A 14.5614652134
MESH:D014591 Uterine Diseases Diethylstilbestrol 14.5614652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.2315809267 16690809
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.6116002989 16513791
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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