AutismKB 2.0

Annotation Detail for PSEN1


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Basic Information Top
Gene Symbol:PSEN1 ( AD3,FAD,PS1,S182 )
Gene Full Name: presenilin 1
Band: 14q24.2
Quick LinksEntrez ID:5663; OMIM: 104311; Uniprot ID:PSN1_HUMAN; ENSEMBL ID: ENSG00000080815; HGNC ID: 9508
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04310Wnt signaling pathway
hsa05010Alzheimer's disease
hsa04722Neurotrophin signaling pathway
hsa04330Notch signaling pathway
Pathway IDPathway Name
Signalling by NGF
Signaling by Notch
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
P00045Notch signaling pathway
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Nervous system diseases
Neurodegenerative diseases
H00056Alzheimer's disease
No data
Desease Name
familial Alzheimer's disease associated
AGING
Abeta load in brain
Alzheimer's disease
memory impairment, subjective
frontotemporal dementia
NEUROLOGICAL
DEVELOPMENTAL
Down Syndrome
cerebral amyloid angiopathy
No data
Desease Name
Dementia, frontotemporal
Alzheimer disease, type 3, with spastic paraparesis and apraxia
Alzheimer disease, type 3
Cardiomyopathy, dilated, 1U
Pick disease
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PSEN1 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of PSEN1 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of PSEN1 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of PSEN1 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PSEN1 mRNAaffects expression 16483693
C015001 arsenite arsenite results in increased expression of PSEN1 mRNAincreases expression 18191166
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PSEN1 mRNAdecreases expression 19150397
D011345 Fenofibrate Fenofibrate affects the reaction [PSEN1 protein affects the cleavage of APP protein]affects cleavage|affects reaction 17962197
D008070 Lipopolysaccharides Lipopolysaccharides results in decreased expression of PSEN1 mRNAdecreases expression 12057914
D008070 Lipopolysaccharides Lipopolysaccharides results in increased expression of PSEN1 mRNAincreases expression 12057914
C406082 monomethylarsonous acid monomethylarsonous acid results in decreased expression of PSEN1 mRNAdecreases expression 20024957
C484278 N2-((2S)-2-(3,5-difluorophenyl)-2-hydroxyethanoyl)-N1-((7S)-5-methyl-6-oxo-6,7-dihydro-5H-dibenzo(b,d)azepin-7-yl)-L-alaninamide PSEN1 gene mutant form results in decreased susceptibility to N2-((2S)-2-(3,5-difluorophenyl)-2-hydroxyethanoyl)-N1-((7S)-5-methyl-6-oxo-6,7-dihydro-5H-dibenzo(b,d)azepin-7-yl)-L-alaninamidedecreases response to substance 17573346
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of PSEN1 mRNAincreases expression 17616710
C030110 oxaliplatin oxaliplatin results in increased expression of PSEN1 proteinincreases expression 19147571
D010634 Phenobarbital Phenobarbital results in increased expression of PSEN1 mRNAincreases expression 19363144
D011374 Progesterone Progesterone inhibits the reaction [PSEN1 gene mutant form results in decreased metabolism of Progesterone metabolite]decreases metabolic processing|decreases reaction 17988898
D011374 Progesterone PSEN1 gene mutant form results in decreased metabolism of Progesterone metabolitedecreases metabolic processing 17988898
C045950 propiconazole propiconazole results in increased expression of PSEN1 mRNAincreases expression 19363144
D018038 Sodium Selenite Sodium Selenite results in decreased expression of PSEN1 mRNAdecreases expression 18175754
C025462 sulindac sulfide sulindac sulfide affects the localization of PSEN1 proteinaffects localization 18359496
C025462 sulindac sulfide PSEN1 gene mutant form results in decreased susceptibility to sulindac sulfidedecreases response to substance 17573346
C025462 sulindac sulfide PSEN1 protein affects the reaction [sulindac sulfide affects the cleavage of APP protein]affects cleavage|affects reaction 12805356
C025462 sulindac sulfide PSEN1 protein mutant form promotes the reaction [sulindac sulfide affects the cleavage of APP protein]affects cleavage|increases reaction 12805356
C025462 sulindac sulfide sulindac sulfide affects the reaction [PSEN1 protein affects the cleavage of APP protein]affects cleavage|affects reaction 17962197
C025462 sulindac sulfide sulindac sulfide results in decreased activity of PSEN1 proteindecreases activity 17573346
C025462 sulindac sulfide [sulindac sulfide results in decreased activity of PSEN1 protein] which affects the cleavage of APP proteinaffects cleavage|decreases activity 17573346
C032910 triadimefon triadimefon results in increased expression of PSEN1 mRNAincreases expression 19363144
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.386195326
MESH:D000138 Acidosis Ammonium Chloride 3.5018287403
MESH:D055371 Acute Lung Injury Lipopolysaccharides 3.9718653653 11850527
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.713712494
MESH:D018248 Adenoma, Liver Cell Phenobarbital 3.9117620307
MESH:D000544 Alzheimer Disease marker/mechanism 17573346 17962197 16449385 17192785
MESH:D000544 Alzheimer Disease sulindac sulfide 3.0718759972
MESH:D000799 Angioedema Acetaminophen 3.7910982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.7418057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 3.8518651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 4.961440618 11289319
MESH:D001778 Blood Coagulation Disorders Amiodarone 3.8419483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.2817868700
MESH:D001930 Brain Injuries Progesterone 4.1915665606 15845082 15380490
MESH:D001943 Breast Neoplasms Progesterone 2.4717614352 15562024 16175315
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.4616705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.463581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.463084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.461701930 20007298 20935162 6705139 17173139
MESH:D002289 Carcinoma, Non-Small-Cell Lung sulindac sulfide 3.4212391285
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.647296757
MESH:D002311 Cardiomyopathy, Dilated marker/mechanism
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.8715710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.0218974383
MESH:D002386 Cataract Acetaminophen 2.5410977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 15.696135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 15.697505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 15.6920889678
MESH:D002471 Cell Transformation, Neoplastic monomethylarsonous acid 15.6919716837
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.194080065
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.1019486331 9022650
MESH:D019457 Chromosome Breakage Sodium Selenite 4.6915894690
MESH:D002972 Cleft Palate triadimefon 3.7016781842
MESH:D003110 Colonic Neoplasms arsenite 4.2715037631
MESH:D003110 Colonic Neoplasms oxaliplatin 4.2716024531 16004971 16510598
MESH:D015179 Colorectal Neoplasms oxaliplatin 2.9418509181 18448328 17255274 17695437 17401013 17594712
MESH:D019465 Craniofacial Abnormalities triadimefon 2.8816875885 15834900
MESH:D003490 Cyanosis 2,6-dinitrotoluene 3.9518551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.7411298694 8156756 11906362 14531868 8970840 18759878 12868966 2524372
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.432952479 3621924
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.7216285004
MESH:D003929 Diabetic Neuropathies Progesterone 4.4317187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 11.8118551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 11.816679447 9328219 9653073 18289764 9022650 1440618 8291058 7440962 18692083 6482804 16192314 11289319 18648102
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 11.8119370779 19420014 10915739 16081117 12392966 12594235 11739529 15968718 16393943 19085960 12705907 2444490 10663392 11421492 10774834 16781746 18071297 16177239 12540782 19164858 12153990 17906064 16485898 14725611 11743745 16227642 11529661 11461765 17562736 12958197 18713872 17522070 14550746 19923254 11287661 11834606 19416960 16109766 19739265 14986274 15619225
MESH:D056486 Drug-Induced Liver Injury Amiodarone 11.8118218290 15265979
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 11.8115131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0419426721
MESH:D050171 Dyslipidemias Fenofibrate 4.3816707586
MESH:D004421 Dystonia Phenobarbital 3.941851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.7217692515
MESH:D016889 Endometrial Neoplasms Fenofibrate 4.0516569247
MESH:D004715 Endometriosis Progesterone 3.7016134523
MESH:D019446 Endotoxemia Lipopolysaccharides 4.3317637181 15328337 15821434
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.043659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.8211558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.8620417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.486401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.197750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 3.963659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.193581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1920426865
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 7.1915150132 15878914 16704527 16510608 15547733 15547721 16805852 15264214 15623463
MESH:D005234 Fatty Liver Amiodarone 7.9714986274
MESH:D005234 Fatty Liver arsenite 7.9718296743
MESH:D005334 Fever Lipopolysaccharides 3.959205823 11852909
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 4.966705139
MESH:D005355 Fibrosis arsenite 4.0018296743
MESH:D057180 Frontotemporal Dementia marker/mechanism
MESH:D005756 Gastritis Acetaminophen 3.6216983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 3.977505956
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.3216366002
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.456705139
MESH:D006529 Hepatomegaly Amiodarone 20.3215265979
MESH:D006529 Hepatomegaly Phenobarbital 20.3216109766
MESH:D006529 Hepatomegaly propiconazole 20.3217178688 17178689
MESH:D006529 Hepatomegaly triadimefon 20.3217178688 17178689
MESH:D006930 Hyperalgesia Acetaminophen 7.8616870215
MESH:D006930 Hyperalgesia oxaliplatin 7.8617418472
MESH:D006937 Hypercholesterolemia Amiodarone 3.818137927 9751232
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.8815034207
MESH:D007037 Hypothyroidism Amiodarone 4.4517991464 18020914
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.3415869954
MESH:D007249 Inflammation Lipopolysaccharides 5.2417237260 12878042 9205823 17255318 17963957
MESH:D007249 Inflammation Progesterone 5.2415869954
MESH:D007333 Insulin Resistance Sodium Selenite 3.2314714311
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.5717255318
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 4.969022650 8074119
MESH:D007569 Jaw Abnormalities triadimefon 4.9015834900 15992940
MESH:D007674 Kidney Diseases Acetaminophen 2.1612587719 15629191
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.1716705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.176582329
MESH:D007970 Leukopenia Lipopolysaccharides 4.6415821434
MESH:D008064 Lipidoses Amiodarone 3.4615342952 17567588
MESH:D008103 Liver Cirrhosis arsenite 6.7418296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.7421047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.159327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Fenofibrate 3.0215474484
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 3.0212878042
MESH:D008107 Liver Diseases Acetaminophen 9.3412587719 19014921 11587558 19460945 16610002 19784758 12969438 16611625
MESH:D008107 Liver Diseases Phenobarbital 9.3419363144
MESH:D008107 Liver Diseases propiconazole 9.3419363144
MESH:D008107 Liver Diseases triadimefon 9.3419363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1816871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.047678174
MESH:D008113 Liver Neoplasms Fenofibrate 14.0418978307
MESH:D008113 Liver Neoplasms Phenobarbital 14.0419073162 15975961 21047994 8742319 19482888 19812893
MESH:D008113 Liver Neoplasms propiconazole 14.0419028983
MESH:D008113 Liver Neoplasms triadimefon 14.0419028983
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 22.862876786 6135515 2876784
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 22.861399818 3712494 6587162 598648
MESH:D008114 Liver Neoplasms, Experimental Fenofibrate 22.8618775883 18253720
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 22.866150874 17172636 2563599 18308698 1399818
MESH:D008114 Liver Neoplasms, Experimental propiconazole 22.8617178689
MESH:D008114 Liver Neoplasms, Experimental triadimefon 22.8617178689
MESH:D008133 Long QT Syndrome Amiodarone 3.5311989578 17391786 15350150
MESH:D008171 Lung Diseases Amiodarone 3.3312587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.4218516814
MESH:D055370 Lung Injury Lipopolysaccharides 3.9421114838
MESH:D008175 Lung Neoplasms arsenite 2.3516809336
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.0014737004
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 2.8211408345 17203775
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5019513568
MESH:D009181 Mycoses Amiodarone 4.8512754197 17974566
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.4117484760
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.807678174 18551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.443581430
MESH:D009389 Neovascularization, Pathologic arsenite 4.3515738583
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.876679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8118514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 8.6816049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 8.684026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 4.963988306
MESH:D010018 Osteomalacia Phenobarbital 4.3017016548
MESH:D010051 Ovarian Neoplasms Progesterone 2.5016525653 17393432
MESH:D010146 Pain Acetaminophen 2.3416870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.4716965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.427296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.416228378
MESH:D020774 Pick Disease of the Brain marker/mechanism
MESH:D011014 Pneumonia Lipopolysaccharides 4.4912224865 11605937
MESH:D011230 Precancerous Conditions Phenobarbital 3.562563599
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.4218760546
MESH:D019310 Pseudolymphoma Phenobarbital 4.4412752131
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8312832656 11597910 12490602
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.6910835634
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.323692021
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8318045962
MESH:D012640 Seizures 2,6-dinitrotoluene 5.7718551238
MESH:D012640 Seizures Phenobarbital 5.773137016 16876388 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 4.766407741
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.0218724381
MESH:D012871 Skin Diseases monomethylarsonous acid 3.3617431481
MESH:D013119 Spinal Cord Injuries Progesterone 4.2215862959 16503802
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3212958204 17575124
MESH:D013276 Stomach Ulcer Amiodarone 3.2618087811
MESH:D013610 Tachycardia Amiodarone 4.2211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.1319225199
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.1015821434
MESH:D013959 Thyroid Diseases Amiodarone 4.7019731979
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 11.801399818 6587162 7505956 6582329 3712494
MESH:D013964 Thyroid Neoplasms Phenobarbital 11.801399818
MESH:D013964 Thyroid Neoplasms triadimefon 11.8017178689
MESH:D013971 Thyrotoxicosis Amiodarone 4.8018020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.1317467628 11989578
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.2916049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.298074119
MESH:D001749 Urinary Bladder Neoplasms monomethylarsonous acid 8.2920375083
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.2610091137
MESH:D014581 Urticaria Acetaminophen 2.9110982225
MESH:D014594 Uterine Neoplasms sulindac sulfide 4.5918645019
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:04722 Neurotrophin signaling pathway
KEGG:04330 Notch signaling pathway
REACT:299 Signaling by Notch
REACT:11061 Signalling by NGF
KEGG:04310 Wnt signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33855
    • No data
    Releated disease ID Related disease Name
    PA162364308Spondylothoracic Dysostosis
    PA443319Alzheimer Disease
    PA443632Cardiomyopathy, Dilated
    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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