AutismKB 2.0

Annotation Detail for NF1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NF1 ( DKFZp686J1293,FLJ21220,NFNS,VRNF,WSS )
Gene Full Name: neurofibromin 1
Band: 17q11.2
Quick LinksEntrez ID:4763; OMIM: 613113; Uniprot ID:NF1_HUMAN; ENSEMBL ID: ENSG00000196712; HGNC ID: 7765
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
No data
Pathway IDPathway Name
200073FOXA2 and FOXA3 transcription factor networks
200164Syndecan-2-mediated signaling events
200116ATF-2 transcription factor network
Pathway IDPathway Name
P00018EGF receptor signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1748Peripheral nerve sheath tumor
1815Dental enamel hypoplasia
1824Bone disease
1832Congenital abnormality
1860Brain tumor
2001Mental retardation
2033Gastrointestinal stromal tumor
2051Leukemia
2072Neurofibromatosis
2125Bladder cancer
2200Intraocular melanoma
2230Alopecia
2257Hemolytic-Uremic syndrome
Desease Name
Neurofibromatosis 1
CANCER
PSYCH
aberrant splicing
intestinal neuronal dysplasia type B (IND B)
Leukemia, Myeloid, Acute
Autism
No data
Desease Name
Watson syndrome
Melanoma, desmoplastic neurotrophic
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Leukemia, juvenile myelomonocytic
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of NF1 mRNAdecreases expression 20406850
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of NF1 mRNAincreases expression 16788091
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of NF1 mRNAaffects expression 17331233
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NF1 mRNAdecreases expression 20106945
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 NF1 mRNAdecreases expression 19150397
C006780 bisphenol A bisphenol A results in decreased expression of NF1 mRNAdecreases expression 18007998
D004958 Estradiol Estradiol results in increased expression of NF1 mRNAincreases expression 19429434
D005473 Fluoxetine Fluoxetine results in decreased expression of NF1 mRNAdecreases expression 17105902
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of NF1 mRNAaffects cotreatment|increases expression 17183730
D009151 Mustard Gas Mustard Gas results in increased expression of NF1 mRNAincreases expression 15674843
D010269 Paraquat Paraquat affects the expression of NF1 mRNAaffects expression 15206577
D020849 Raloxifene Raloxifene results in increased expression of NF1 mRNAincreases expression 19429434
C017947 sodium arsenite sodium arsenite results in increased expression of NF1 mRNAincreases expression 20308225
D018038 Sodium Selenite Sodium Selenite results in decreased expression of NF1 mRNAdecreases expression 18175754
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of NF1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.548875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9619490988
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3020127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.3011473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.676695378
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.7615276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 4.9617306315 16712894
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.8111874814
MESH:D000419 Albuminuria Raloxifene 4.6317451421 17308373
MESH:D000544 Alzheimer Disease Raloxifene 2.5515800139
MESH:D000550 Amblyopia Valproic Acid 5.3017688650
MESH:D001008 Anxiety Disorders Fluoxetine 9.4018083778
MESH:D001008 Anxiety Disorders Valproic Acid 9.4017497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1219183758
MESH:D001249 Asthma Mustard Gas 2.7210378619
MESH:D001321 Autistic Disorder marker/mechanism 15389774
MESH:D001321 Autistic Disorder Fluoxetine 2.5719232924 18775368
MESH:D001321 Autistic Disorder Valproic Acid 2.5718177632 20603192 17157402 18316065 18558336 15238991 18396377 17507914 18940202 18985861 18775368 19232924 17688650 19460635 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.0920046352 17594078
MESH:D001768 Blister Mustard Gas 5.2119167455
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.428888407
MESH:D001862 Bone Resorption bisphenol A 3.8911985600
MESH:D001930 Brain Injuries Raloxifene 4.5216580743
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9820146248 17474063
MESH:D001943 Breast Neoplasms bisphenol A 1.9817123778
MESH:D001943 Breast Neoplasms Estradiol 1.9814630087 17289903 12948864 19861407 18497071 17018787 17261762 16675129
MESH:D001943 Breast Neoplasms Raloxifene 1.9817440819 15775269 16912660 17049068 15758505 17242785 15572757 17261762 17893378 16837676 17952589 17595753
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.2115286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.0417687719 10378619
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5116111702
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.6116705839
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6116924424
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.6117306315 15276417 16507464
MESH:D002278 Carcinoma in Situ bisphenol A 5.0417123778
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.6220419170
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.6218572023
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 4.1017572228
MESH:D002318 Cardiovascular Diseases Raloxifene 3.4615775269
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 16.196135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 16.1920889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 16.1918566989
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 16.1920056578 19524636
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7220734317
MESH:D019457 Chromosome Breakage Sodium Selenite 4.7915894690
MESH:D003072 Cognition Disorders Raloxifene 4.6615800139
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.898888407 17688650 16575769
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.0618551238
MESH:D003866 Depressive Disorder Fluoxetine 4.6215014590
MESH:D003865 Depressive Disorder, Major Raloxifene 4.1917474826
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8016285004
MESH:D003928 Diabetic Nephropathies Estradiol 9.0919279558
MESH:D003928 Diabetic Nephropathies Raloxifene 9.0917308373 17451421 15920148
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.3418551238 21346803
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.3415131321
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.341733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.081851702
MESH:D004487 Edema Fluoxetine 11.9812798668
MESH:D004487 Edema Mustard Gas 11.9811428647 11428631 9260866 11402378
MESH:D004487 Edema Raloxifene 11.9815860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 4.0315845917
MESH:D016889 Endometrial Neoplasms Estradiol 3.0011473722 19148513 18566989
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.193659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 3.983922381 16628512
MESH:D004827 Epilepsy Valproic Acid 2.9520417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.617562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.347750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.113659116
MESH:D004890 Erythema Mustard Gas 5.219357497
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.3720426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.3716530937
MESH:D005234 Fatty Liver Raloxifene 8.1417473493
MESH:D005234 Fatty Liver Valproic Acid 8.1414986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 4.9516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.178888407 18558336
MESH:D005354 Fibrosarcoma marker/mechanism 20601955
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.7316452187
MESH:D005911 Gliosis Paraquat 5.2311124998
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.6720471113
MESH:D006331 Heart Diseases Raloxifene 3.5511110106
MESH:D006558 Herpes Genitalis Estradiol 5.0915709030
MESH:D006689 Hodgkin Disease sodium arsenite 3.1812676792
MESH:D019584 Hot Flashes Estradiol 10.7517088409
MESH:D019584 Hot Flashes Fluoxetine 10.7514716179
MESH:D006849 Hydrocephalus Valproic Acid 4.9217688650
MESH:D006973 Hypertension Raloxifene 2.8717577099 15787275
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.6716612254
MESH:D007248 Infertility, Male Paraquat 6.984850670
MESH:D007248 Infertility, Male sodium arsenite 6.9815346721 12646999
MESH:D007249 Inflammation Fluoxetine 5.8312798668
MESH:D007249 Inflammation Mustard Gas 5.8311428631 11428620 11428647 9357497 11402378 17524151 16001271 8975870 9260866
MESH:D007333 Insulin Resistance bisphenol A 12.5116393666
MESH:D007333 Insulin Resistance Estradiol 12.5116627594 16393666
MESH:D007333 Insulin Resistance Sodium Selenite 12.5114714311
MESH:D007674 Kidney Diseases Estradiol 6.1615618244
MESH:D007674 Kidney Diseases sodium arsenite 6.1620008137
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.4416705839
MESH:D007680 Kidney Neoplasms Estradiol 7.4415610895
MESH:D007889 Leiomyoma Raloxifene 4.5316973256
MESH:D015470 Leukemia, Myeloid, Acute marker/mechanism 21441929
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1516294345 17596541
MESH:D054429 Leukemia, Myelomonocytic, Juvenile marker/mechanism
MESH:D008064 Lipidoses Fluoxetine 4.6717567588 15342952
MESH:D008080 Liposarcoma marker/mechanism 20601955
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814716833 14659978
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.507678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.5021137059 20195826
MESH:D008113 Liver Neoplasms sodium arsenite 7.5016712894 15276417
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.562876786 2876784 6135515
MESH:D008171 Lung Diseases Mustard Gas 7.6018702808 18161513
MESH:D008171 Lung Diseases sodium arsenite 7.6019095001
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.3217228818
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.0617365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5018520028 20064080 20464547 20135361 18569708 17053015 6695378 20869020 18816296
MESH:D008175 Lung Neoplasms Mustard Gas 3.503148597 8781369
MESH:D008175 Lung Neoplasms sodium arsenite 3.5017077188 16712894 15276417 17306315 19931552
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.0914737004
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.5816891317 11807958 17203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.5519453300
MESH:D008545 Melanoma sodium arsenite 2.0316487513 19082730
MESH:D001523 Mental Disorders Fluoxetine 4.6816856516
MESH:D008607 Mental Retardation marker/mechanism 21236316
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.1916966607 18303189 16166281
MESH:D008881 Migraine Disorders Valproic Acid 3.2118803445 18765137
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.6215863610
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2116381670
MESH:D009101 Multiple Myeloma Raloxifene 3.4616497877
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.068888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1717596541
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3016810080
MESH:D009207 Myoclonus Fluoxetine 5.938041377
MESH:D009232 Myxoma Raloxifene 5.6216343187
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.917678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0711141357
MESH:D009369 Neoplasms sodium arsenite 5.0711559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.7120056578
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7817289903
MESH:D009410 Nerve Degeneration Paraquat 3.7416893418
MESH:D009421 Nervous System Malformations bisphenol A 9.8711399458 16427766
MESH:D009421 Nervous System Malformations Estradiol 9.8711399458 16427766
MESH:D009436 Neural Tube Defects sodium arsenite 7.4012854658
MESH:D009436 Neural Tube Defects Valproic Acid 7.4016359493 8888407
MESH:D009456 Neurofibromatosis 1 marker/mechanism
OMIM:162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL marker/mechanism
MESH:C537393 Neurofibromatosis-Noonan syndrome marker/mechanism
MESH:D009503 Neutropenia Mustard Gas 4.0016761898 7688884
MESH:D009771 Obsessive-Compulsive Disorder Fluoxetine 5.4720418887
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.4616049721
MESH:D010024 Osteoporosis Raloxifene 3.4115775268 17882678 19059307
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.2617823083 15758505 15579764 17893378
MESH:D010049 Ovarian Diseases bisphenol A 5.0411985600
MESH:D010051 Ovarian Neoplasms Estradiol 4.8619401270
MESH:D010051 Ovarian Neoplasms sodium arsenite 4.8617306315 15276417
MESH:D010146 Pain Fluoxetine 4.3612798668
MESH:D010300 Parkinson Disease Paraquat 2.8211445065 11124998 16140633 16510128 15451049 11181820 12911755 15824117
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.4716190885
MESH:D020774 Pick Disease of the Brain Fluoxetine 6.048041377
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 4.9310923243
MESH:D011014 Pneumonia Paraquat 4.5012504350
MESH:D011041 Poisoning Mustard Gas 3.8315727166
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 9.9110548101
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.9120603192
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.6520887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.6520887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 1.8917292933
MESH:D011471 Prostatic Neoplasms bisphenol A 1.8916740699
MESH:D011471 Prostatic Neoplasms Estradiol 1.8916740699
MESH:D011471 Prostatic Neoplasms Raloxifene 1.8915731164 16536755 16220300
MESH:D011471 Prostatic Neoplasms sodium arsenite 1.8916039940
MESH:D011471 Prostatic Neoplasms Sodium Selenite 1.8918760546
MESH:D011537 Pruritus Mustard Gas 4.1418058305
MESH:D019310 Pseudolymphoma Valproic Acid 4.6012752131 11422049
MESH:D011629 Puberty, Precocious bisphenol A 4.8410548101
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 9.4317975199 15814490 17322281 17365031
MESH:D011658 Pulmonary Fibrosis Mustard Gas 9.4317620002 17894541 10334151 17266442 17720292
MESH:D011658 Pulmonary Fibrosis Paraquat 9.4317997886 16324872
MESH:D011693 Purpura Raloxifene 5.6215770314
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 3.9411700416
MESH:D012135 Respiratory Sounds Paraquat 4.1011874814
MESH:D012162 Retinal Degeneration Paraquat 3.8916458197
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2119155313
MESH:D012509 Sarcoma marker/mechanism 20601955
MESH:D012559 Schizophrenia Valproic Acid 2.0715737665 19110320
MESH:D012640 Seizures 2,6-dinitrotoluene 6.0018551238
MESH:D012640 Seizures Valproic Acid 6.0014763951 16876388 17978042 3137016 11044598 1511512 15475178 11738929
MESH:D020230 Serotonin Syndrome Fluoxetine 5.968704074
MESH:D012871 Skin Diseases Mustard Gas 2.7215451306 12880345 16961503
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7510029692 19755658
MESH:D012878 Skin Neoplasms sodium arsenite 5.7518572023 19524636
MESH:D016135 Spinal Dysraphism sodium arsenite 9.6112854658
MESH:D016135 Spinal Dysraphism Valproic Acid 9.6119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6012833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Raloxifene 3.8416837676
MESH:D019966 Substance-Related Disorders bisphenol A 4.0316045194 16684133
MESH:D013978 Tibial Fractures Estradiol 13.9219048282
MESH:D013978 Tibial Fractures Raloxifene 13.9219048282
MESH:D014178 Translocation, Genetic Valproic Acid 5.3017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.573119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 12.0316049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 12.0317053015
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 12.0317572228
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 12.0317306315 16452187 16712894 11723127
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.688888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.3710091137
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.7911813266
MESH:D014591 Uterine Diseases bisphenol A 5.0714652134
MESH:D014652 Vascular Diseases sodium arsenite 4.4717056641
MESH:D054556 Venous Thromboembolism Raloxifene 5.2716837676
MESH:D014846 Vulvar Neoplasms Raloxifene 5.6216343187
OMIM:193520 WATSON SYNDROME marker/mechanism
Pathway ID Pathway Name
KEGG:04010 MAPK signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31572
    • No data
    Releated disease ID Related disease Name
    PA443265Adenocarcinoma
    PA444283Glioblastoma
    PA445440Pseudarthrosis
    PA443756Colonic Neoplasms
    Releated drug ID Related drug Name
    PA448547beclomethasone
    PA164754818betamethasone
    PA448681budesonide
    PA164781399ciclesonide
    PA164776996desonide
    PA449247dexamethasone
    PA449661flunisolide
    PA449686fluticasone propionate
    PA452347glucocorticoids
    PA449905hydrocortisone
    PA450466methylprednisolone
    PA450541mometasone
    PA164777035paramethasone
    PA451096prednisolone
    PA451100prednisone
    PA164752251rimexolone
    PA451749triamcinolone
    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved